Showing papers on "Hypertelorism published in 2000"

Cri du chat syndrome: changing phenotype in older patients.

Abstract: The cri du chat syndrome or 5p deletion syndrome is a well-delineated clinical entity and has an incidence of 1/50,000 in newborn infants. A de novo deletion is present in 85% of the patients. Ten to 15% are familial cases with more than 90% due to a parental translocation and 5% due to an inversion of chromosome 5. Although the size of the deleted segment varies, the critical segment that is deleted in all patients appears to be 5p15.2. The clinical picture is well known in younger patients and includes the typical high-pitched cry, psychomotor retardation, microcephaly, growth rate failure, and craniofacial abnormalities including round face, hypertelorism, broad nasal bridge, downward slanting palpebral fissures, and micrognathia. With advancing age, the clinical picture becomes less striking. We present seven patients with 5p deletion syndrome, who were between age 16 and 47 years. Comparing their phenotype at several ages, a change of their phenotype was noted. Some of the clinical characteristics became more evident such as long face, macrostomia, and scoliosis. All patients were severely or profoundly mentally retarded except one patient who was mildly mentally retarded. The diagnosis was difficult to make in some of the patients who were first seen at an older age. In some of them, the craniofacial appearance resembled that seen in Angelman syndrome. Most patients had periods of destructive behavior, self mutilation, and aggression. The clinical diagnosis should be confirmed as soon as possible with cytogenetic investigation to provide specific support, prevention, and treatment of complications. Therefore, it is important to perform follow-up studies in young children to determine their outcome after infant-stimulation programs.

Familial congenital pulmonary lymphangectasia, non-immune hydrops fetalis, facial and lower limb lymphedema: confirmation of Njolstad's report.

Abstract: We report on four cases, three familial and one sporadic, with congenital pulmonary lymphangectasia and facial and lower limb lymphedema. Hydrops fetalis was observed in three cases and death occurred in one of those. This is the third report describing inherited pulmonary lymphangectasia with a clinical phenotype very similar to that described by Njolstad et al. [1998: Eur J Pediatr 157: 498-501], who reported three sibs with non-immune hydrops fetalis (NIHF), chylothorax, pulmonary lymphangectasia, distal lymphedema, and swelling of the face. We think that the present report and that of Njolstad et al. describe a new condition very similar to Hennekam syndrome, which is characterized by autosomal recessive inheritance, intestinal lymphangiectasia, lymphedema of the lower limbs and facial anomalies (flat face, hypertelorism, flat, broad nasal bridge, lymphedema, tooth anomalies, and ear defects). Similarity with our cases and Hennekam syndrome will be discussed.

Oral findings in DiGeorge syndrome: Clinical features and histologic study of primary teeth

Abstract: Objective. For the purpose of supplementing the shortage of dental information about DiGeorge syndrome, we report two cases of the syndrome seen in Japanese boys. Study design. Two cases were compared with respect to orofacial and dental findings; one was a case of complete DiGeorge syndrome and the other a case of partial DiGeorge syndrome. Extracted deciduous teeth from the two boys underwent histologic study. Results. Each patient showed systemic developmental delay, hypocalcemia, and slight mental retardation. In the orofacial area, hypertelorism, a short philtrum, thick and reflected lips, and hypoplasia of the nasopharynx were also observed. A dental examination showed delayed formation and eruption of permanent teeth, aplasia of the nasopharynx, and enamel hypoplasia along with enamel hypocalcification. Structural streaks with increased calcification were histologically detected in the deciduous tooth from the patient with complete DiGeorge syndrome. Conclusions. Common characteristic orofacial and dental findings were noted in the two DiGeorge syndrome cases. Furthermore, histologic study of the deciduous tooth from the boy with complete DiGeorge syndrome suggests that there was some relationship between transient relative hypercalcemia and dentinal hypermineralized streaking of the tooth.(Oral Surg Oral Med Oral Pathol Oral Radiol Endod 2000;89:208-15)

OFD II, OFD VI, and Joubert syndrome manifestations in 2 sibs.

Abstract: We present 2 sibs with manifestations of oral-facial-digital syndromes (OFD) and Joubert syndrome. The index patient was the 5th child of healthy nonconsanguineous Turkish parents. At birth this female patient had large hydrocephalus, hypertelorism, deep-set eyes, nystagmus, broad mouth, thick oral frenula, cleft palate, hamartomas of the tongue, postaxial polydactyly of fingers, normal toes, and hypotonia. Cranial MRI showed hydrocephalus and Dandy-Walker malformation. The child had no psychomotor development, was unable to swallow and had severe seizures. She died at 2 months of recurrent apneic episodes. At birth the brother of the index patient showed prominent forehead, broad, deep nasal bridge, cleft palate, multiple hamartomas of the tongue, irregular alveolar ridges, retrognathia, bilateral postaxial polydactyly of the hands and feet, and broad halluces. He had an abnormal breathing pattern with phases of tachypnea and apnea. Cranial MRI showed hydrocephalus, hypoplasia of the cerebellar vermis, Dandy-Walker malformation, and hypomyelination of the corpus callosum. Renal ultrasonography demonstrated multiple small cysts. Ocular fixation was absent and he had a mild nystagmus.

Trisomy 7p resulting from 7p15;9p24 translocation: report of a new case and review of associated medical complications.

Abstract: The authors report on a young girl with generalized developmental deficits originally thought to be caused by an unusual reaction to DPT vaccination. At the age of 4(1/2) years, chromosome analysis showed that the terminus of the short arm of chromosome 9 had extra material believed to originate from 7p terminus, thus she was considered to be trisomic for a segment of 7p and monosomic for a small portion of 9p [46,XX,der (9), t(7;9)(p15;p24)]. Ten years later, molecular cytogenetic testing using fluorescence in situ hybridization (FISH) confirmed that the extra chromosomal material represented partial trisomy 7p. The proposita had a high and large forehead, hypertelorism, and broad nasal bridge, findings seen in most individuals with trisomy 7p. Long-term follow-up showed the presence of hypothyroidism, obesity, and cerebral palsy. A review of all published cases of trisomy 7p with focus on associated complications suggests a well-defined pattern of abnormalities characterized by musculoskeletal, cardiovascular, neurological, genital, and ocular abnormalities in decreasing frequency. At least one-third of affected individuals died in infancy and close to half had severe mental retardation. FISH was essential in the confirmation of the cytogenetic abnormality and further delineation of the chromosomal disorder.

Knobloch syndrome involving midline scalp defect of the frontal region.

Abstract: We report on a 4-year-old boy with Knobloch syndrome. He has vitreoretinal degeneration, high myopia, cataract, telecanthus, hypertelorism, and a high-arched palate. He also has a defect of the anterior midline scalp with involvement of the frontal bone as documented by a computed tomography (CT) scan. The brain was normal on CT scan and magnetic resonance imaging. We present a review of the 23 published cases with this syndrome. Our patient illustrates the importance of investigating for underlying ocular and central nervous system pathology whenever midline scalp defects are present.

Duplication of the Hypophysis

Abstract: The authors describe an 11-year-old girl with duplication of a pituitary gland and hypertelorism. Of the 14 cases described to date, only 2 others have lacked associated major facial or oral anomalies

The prenatal diagnosis of Binder syndrome before 24 weeks of gestation: case report

Abstract: A case of Binder syndrome was diagnosed at 21 weeks of gestation using two-dimensional and three-dimensional ultrasound. The first indication of any abnormality was a flattened fetal nose demonstrated in the mid-sagittal plane. Further ultrasound imaging showed the virtual absence of the naso-frontal angle, giving the impression of a flat forehead and small fetal nose. Suspected mild hypertelorism was also seen using transverse and coronal planes. Differential diagnosis of this condition is discussed.

The first three mosaic cri du chat syndrome patients with two rearranged cell lines

Abstract: Editor—Cri du chat syndrome (CdCS) is one of the more common deletion syndromes, involving the short arm of chromosome 5, with an incidence of 1 in 50 000 live births. Classically, patients with this syndrome present with microcephaly, a round face, hypertelorism, micrognathia, prominent nasal bridge, epicanthic folds, hypotonia, and severe psychomotor retardation. Infants also exhibit a high pitched cry similar to the mewing of a cat, which is usually considered diagnostic for this syndrome.1 2 Recently, genotype-phenotype studies in CdCS led to the identification of two separate chromosomal regions, hemizygosity for which is associated with specific phenotypes.3 A deletion of 5p15.3 results in the manifestation of a cat-like cry4, while a deletion of 5p15.2 results in the presentation of the other major clinical features of the syndrome.5 Moreover, a region for speech delay in 5p15.3 has been identified.6 From a review of 331 published cases, Niebuhr2 estimated that most CdCS cases are the result of de novo deletions (about 80%), some derive from a familial rearrangement (12%), and only a few show other rare cytogenetic aberrations, such as mosaicism (3%), rings (2.4%), and de novo translocations (3%). Chromosomal mosaicism in CdCS has been described involving a cell line with a 5p deletion and a cell line with a normal karyotype.2 7 We describe the first three reported cases of mosaic de novo 5p anomalies involving two rearranged cell lines in CdCS out of 80 (3.75%) patients from the Italian Register of CdCS8analysed in a large study of correlation between 5p deletion and phenotypic effect (Cerruti Mainardi et al , manuscript in preparation). Patient 1 was the first female child of healthy, unrelated parents. At birth the mother was 29 and the father 31 years old. The pregnancy was …

Terminal osseous dysplasia and pigmentary defects: clinical characterization of a novel male lethal X-linked syndrome.

Abstract: We describe a new syndrome of distal limb anomalies and pigmentary skin defects in 10 females of a large, four-generation pedigree. The family was ascertained through a 4-month-old infant girl with multiple anomalies, including hypertelorism, iris colobomas, low-set ears, midface hypoplasia, punched-out pigmentary abnormalities over the face and scalp, generalized brachydactyly, and digital fibromatosis. No affected males were identified in this pedigree. Affected females had a lower than normal male-to-female ratio of liveborn offspring, and some of them also had a history of several miscarriages. These findings, together with a significant variability in the phenotype of the affected females, suggest that this condition is inherited in an X-linked dominant fashion, with prenatal male lethality, and that X-inactivation plays an important role in the phenotypic expression of the disease. The syndrome has been described twice in the literature, but only in sporadic cases; it was therefore not recognized as a mendelian entity. Because the most consistent findings are anomalies of the distal skeleton of the limbs and localized pigmentary abnormalities of the skin, we named the syndrome "terminal osseous dysplasia with pigmentary defects." This condition, though rare, can be added to the small group of male lethal X-linked dominant disorders in humans.

New MR/MCA syndrome with distinct facial appearance and general habitus, broad and webbed neck, hypoplastic inverted nipples, epilepsy, and pachygyria of the frontal lobes

Abstract: Editor—We present the clinical histories and physical findings in two unrelated, severely mentally retarded males, now 14 and 11 years old. Patient 1, a male, was born as the second and youngest child of healthy, unrelated Flemish parents with normal family histories. Pregnancy and delivery at 38 weeks' gestation were normal. Birth weight was 3200 g, length 47 cm, and head circumference 34 cm. Immediately after birth a number of dysmorphic signs were noted by the paediatrician, including facial oedema with ptosis of both eyelids, temporal flattening, hypertelorism, webbed neck, broad thorax with widely spaced, small, inverted nipples, shallow scrotum, and testes in the inguinal canal. The hands were broad and short with permanent oedema on the dorsum and the skin was loose and hyperextensible, especially on the arms. The diagnosis of Noonan syndrome was considered. Cardiac and renal echography was normal. Prometaphase chromosome studies on a peripheral blood lymphocyte culture showed a 46,XY normal male karyotype after G and R banding. Except for excessive weight loss, down to 2600 g, no major problems were noted in the neonatal period. In the first two years of life mild psychomotor retardation was noted with discrete hypertonia of the lower limbs. He started to walk without support on tiptoes at the age of 19 months. At the age of 2 years mental age was 15 months on the Bayley Developmental Scale. At the age of 3 years, the first episodes of epileptic attacks were noted with variable clinical presentation of the grand mal, petit mal, and myoclonic types. Seizures were resistant to anti-epileptic therapy and, from that age onwards, severe behavioural problems were noted with chaotic and destructive tantrums. …

Holoprosencephaly, hypertelorism, and ectrodactyly in a boy with an apparently balanced de novo t(2;4) (q14.2;q35).

Abstract: A holoprosencephaly, hypertelorism, and ectrodactyly syndrome (HHES) was described in three previous cases in whom chromosomes were apparently normal. We report on a 3-year-old boy with HHES and a de novo apparently balanced t(2;4)(q14.2;q35) confirmed by fluorescent in situ hybridization. He had severe growth and mental retardation, lobar holoprosencephaly, hypertelorism, microphthalmos, and iris, choroid, and retina colobomata. Less-severe facial involvement correlates with the semilobar type of holoprosencephaly; limb defects consisted of foot ectrodactyly and syndactyly. All previous HHES cases were sporadic and of unknown cause. A cryptic imbalance secondary to the translocation (2;4) in our patient may explain the phenotype.

A nevoid basal cell carcinoma syndrome with chromosomal aberration

Abstract: We reported a boy with nevoid basal cell carcinoma syndrome (NBCCS) with chromosomal aberration. He showed multiple jaw cysts, basal cell carcinomas, hypertelorism, macrocephaly and mental retardation. Cranial CT revealed calcification of the falx cerebri and tentorium cerebelli, and dilatation of the lateral ventricles. MRI showed a thin corpus callosum. A chromosomal study revealed a deletion of 9q21.31-q22.31. He had generalized tonic-clonic seizures, which were well controlled. Since the gene for NBCCS was recently mapped to chromosome 9q22.3, we suspected that the deletion site in this patient was responsible for his symptoms of NBCCS.

Syndrome of autosomal recessive polycystic kidneys with skeletal and facial anomalies is not linked to the ARPKD gene locus on chromosome 6p.

Abstract: We report on two sibs, both males, one born at 37 the other at 24 weeks of gestation, both with a syndrome similar to that seen in three sets of sibs by Gillessen-Kaesbach et al. [1993: Am J Med Genet 45:511–518]. Both propositi had polycystic kidneys and hepatic fibrosis indistinguishable from that seen in autosomal recessive polycystic kidney disease (ARPKD), and skeletal and facial anomalies. Skeletal abnormalities included “butterfly” vertebrae, square shape of pelvis, and brachymelia. The facial anomalies included hypertelorism, epicanthic folds, and anteverted nares. Additional external findings were apparently low-set ears and a short neck. Histopathological examination of the kidneys showed radial orientation and cystic dilatation of the cortical and medullar tubules. The liver showed “congenital hepatic fibrosis.” The hepatic findings in the second infant were less severe. Renal abnormalities were limited to focal tubular cystic changes. Linkage analysis with polymorphic markers of the region 6p21.1-p12, flanking the gene locus of ARPKD, showed different haplotypes in the sibs, thus excluding the ARPKD gene locus in this family and indicating genetic heterogeneity. Am. J. Med. Genet. 90:115–119, 2000 © 2000 Wiley-Liss, Inc.

Frontonasal dysplasia, macroblepharon, eyelid colobomas, ear anomalies, macrostomia, mental retardation, and CNS structural anomalies: another observation.

Abstract: We report a Japanese girl with brachycephaly, a wide forehead, hypertelorism, macroblepharon with eyelid colobomas, ectropion, a broad nasal root, a depressed nasal tip, macrostomia, a small and grooved chin, ear anomalies, a structural anomaly of the corpus callosum, dilatation of the fourth ventricle, a urogenital sinus, and mental retardation. Cause and inheritance are unknown.

Bilateral microphthalmos with colobomatous orbital cyst and de-novo balanced translocation t(3;5).

Abstract: A term Caucasian male infant, born to a healthy non-related couple, was noted at birth to have bilateral edema and bluish discoloration of the lower eyelids. On physical examination, the eye globes were not visualized and hypertelorism was noted. Radiological imaging revealed large bilateral orbital cysts, microphthalmos, and severe optic nerve hypoplasia. Histological study of the excised orbital masses showed cysts lined by primitive, immature retinal tissue which contained neuroglial elements and scattered dysplastic rosettes. Chromosome analysis revealed an apparent balanced reciprocal translocation between the long arm of chromosome 3 and 5, i.e. 46, XY, t (3; 5) (q27; q11.2). Chromosome studies in parents were normal. To our knowledge, the association of this balanced translocation and microphthalmos with cyst has not been previously described in the English literature.

The Palm Print as a Sensitive Predictor of Difficult Laryngoscopy in Diabetics: A Comparison with Other Airway Evaluation Indices

Abstract: Neurofibromatosis (NF), Noonan syndrome (NS), and LEOPARD syndrome are all autosomal dominant conditions, each being a distinct clinical entity by itself. Rarely, one encounters cases with features of NF and NS and is termed as the ‚Neurofibromatosis-Noonan syndrome™ (NF-NS). The authors report a clinical dilemma with major clinical features of the NF-NS syndrome and LEOPARD syndrome co-existing in the same patient. Also, features of Noonan syndrome and LEOPARD syndrome are compared with the case reported. (J Postgrad Med 2000; 46:98-100) Key Words: Neurofibromatosis, Noonan syndrome, LEOPARD syndrome, Lentigines, Pulmonary stenosis, Cafe-au-lait spots Noonan syndrome (NS) is fairly common and occurs with an incidence of 1:1000 to 1:2500 live births 1 . Neu- rofibromatosis (NF) is also common and affects 1 in 3500 individuals 2 . A few patients with characteristics of both NF and NS have been described and are called as the Neu- rofibromatosis-Noonan syndrome (NF-NS) 1 . LEOPARD syndrome is a rare multisystemic disorder characterised by Lentigines, ECG abnormalities, Ocular hypertelorism, Pul- monic stenosis, Abnormalities of genitalia, Retardation of growth, and Deafness

Further case of aminopterin syndrome sine aminopterin in a Spanish child.

Abstract: We report on a Spanish child with clinical manifestations suggestive of aminopterin syndrome sine aminopterin (ASSA), having unusual hair pattern, syndactyly of fingers and toes, low-set thumbs, high-arched palate, and mild developmental delay. However, he does not show other characteristic features of ASSA such as ossification defects of the cranium, microcephaly, hypertelorism, cryptorchidism, or growth retardation. Differences from and similarities with Juberg-Hayward syndrome are discussed. Because few patients have been reported so far it is difficult to distinguish between these two conditions, and it may be that they are variants of the same nosological entity. Consanguinity of parents in this family supports autosomal recessive inheritance of ASSA.

Additional case of Keipert syndrome and review of the literature.

Abstract: SUMMARY We report on a 7-year-old boy with unusual facial features, severe bilateral sensorineural hearing loss, andbroad terminal phalanges. These findings are similar to those described by Keipert et al. in two brothers and byBalci and Dagli in two other male siblings. Our patient has, in addition, developmental delay and abnormalbehaviour. To the best of our knowledge, this is only the third report of Keipert syndrome. Received: 2000.01.17Accepted: 2000.02.08Correspondence address: M.M. Khalifa MD, Division of Medical Genetics, QueenOs University, 20 Barrie Str., Kingston, Ontario, K7L 3N6Canada, e-mail: khalifam@post.queensu.ca INTRODUCTION In 1973, Keipert et al [1] described two brotherswith broad terminal phalanges, sensorineural hear-ing loss and distinctive facial abnormalities includingocular hypertelorism, broad nose with a high bridgeand prominent cupidOs bow-shaped upper lip. In1996, Balci and Dagli [2] published a second reportof two brothers with KeipertOs phenotype and pul-monic stenosis. In this paper, we describe anothermale with features similar to those of Keipert syn-drome. This case further supports the possibility ofX-linked inheritance of this syndrome since noaffected females have been reported to date.

New autosomal dominant syndrome reminiscent of Coffin-Siris syndrome and Brachymorphism-Onychodysplasia-Dysphalangism syndrome.

Abstract: We report a man and his two daughters (one stillborn) with an apparently unique constellation of anomalies including fifth finger/toe terminal phalanx and nail hypoplasia. The craniofacial manifestations include large boxy head, round face, hypertelorism with downslanting palpebral fissures and wide mouth. Other manifestations include brachydactyly, fifth finger clinodactyly and ventricular septal defect. Intelligence is normal. The resemblance to Coffin-Siris, Brachymorphism-Onychodysplasia-Dysphalangism and DOOR syndromes is discussed and we concluded that this family probably represents a new autosomal dominant syndrome.

Surgical treatment of frontoethmoidal encephalocele: a case report.

Abstract: This study reports a patient affected by congenital frontoethmoidal encephalocele. The cause of this malformation is unknown. A preoperative selective diagnosis evaluation is necessary. The workup should include an accurate clinical examination associated with radiological study (two- and three-dimensional computed tomography, magnetic resonance imaging, etc). The aim of the surgical treatment is to restore the functional brain tissue in the cranial cavity, perform dural repair, correct bone lack and other associated facial malformations (hypertelorism, orbital dystopia, etc.). A multidisciplinary team approach is necessary to resolve the brain herniation and to correct splanchnocranium malformations frequently associated with encephalocele. Cranial flap with orbital osteotomies has been performed; this operation permits correction of the hypertelorism and of the orbital dystopia associated with this malformation. In bone reconstructions, miniplates have been used as fixation devices. In adults we generally use titanium, but resorbable devices are required in children because of growing tissues. A restoration of craniofacial malformations with good aesthetic and functional results is achieved with early surgery.

Prenatal detection of trisomy for the entire long arm of chromosome 7

Abstract: Editor—Duplication of the long arm of chromosome 7 is extremely rare; most of the reported cases are partial trisomies. The first and only previous case of complete 7q duplication was reported in 1978 by Wahrman et al ,1 who described a proband at 3 years of age with a phenotype including a large face with sloping forehead, downward slanting palpebral fissures, bilateral epicanthic folds, low set, malformed ears, short neck, and genitourinary and renal anomalies. Here we report a case of duplication of the whole of 7q with phenotypic characteristics similar to most reported cases of partial trisomy 7q, which include frontal bossing, low set, malformed ears, micrognathia, hypertelorism, and skeletal abnormalities.2 3 The extent of the duplication and verification of breakpoints were determined using FISH probes. The patient was delivered by caesarian section at 34 weeks' gestation to a G1, P0, 15 year old female. She was first seen at 33 weeks' gestation when a sonogram showed multiple congenital anomalies including severe hydrocephalus, a two vessel umbilical cord, …

Prenatal diagnosis of oral‐facial‐digital syndrome, type I.

Abstract: OFD syndrome is a group of at least nine disorders that overlap substantially in their physical abnormalities. Although many different malformations are seen in this syndrome, consistent findings include oral anomalies, particularly cleft lip or palate or both, facial anomalies, such as hypertelorism, micrognathia, frontal bossing, or facial asymmetry, and digital anomalies. Other frequent anomalies include central nervous system and genitourinary tract abnormalities. 1,2 Mental retardation is also commonly found in OFD syndrome, type I. 3 We present a case of OFD syndrome, type I, diagnosed in a second trimester fetus.

Partial trisomy 22 in a liveborn resulting from a rearrangement between chromosomes 6 and 22

Abstract: Editor—We report on a case with an apparent duplication of 22q with an initial karyotype of 46,XY,add(6)(p24).ish der(6)(6qter→6p24::22q11→22qter)(wcp6+,wcp22+). To our knowledge this is the first report of such an association. We have attempted to characterise the exact regions of duplication using fluorescence in situ hybridisation (FISH) techniques and confirmed that the case is indeed not deleted for chromosome 6 and is only partially trisomic for 22q, thus allowing a more detailed genotype-phenotype correlation than previous studies. The majority of reports of duplication of chromosome 22 involve the proximal region on 22q. The most common cause of trisomy or tetrasomy of proximal 22q is a de novo supernumerary bisatellited marker chromosome derived from inverted duplication of 22p and 22q11. These supernumerary marker chromosomes have been associated with the cat eye syndrome (CES).1 In contrast, duplications of the distal part of the chromosome 22q region that arise de novo are relatively rare with only eight cases reported so far.2-9 A clinical picture of the distal 22q duplication syndrome has emerged from this limited number of cases comprising growth retardation, shortened life span, congenital heart defects, hypertelorism, narrow palpebral fissures, small nose with anteverted nares, small thorax with hypoplastic nipples, muscular hypotonia, feeding difficulties associated with failure to thrive, and anomalies of the external genitalia in males.5 9 The boy was born at 39 weeks after an uneventful pregnancy to healthy, non-consanguineous, 33 year old parents. It was the second pregnancy; the first pregnancy was spontaneously aborted at 6 weeks' gestation. Family history was normal. Clinical examination at birth showed a proportionately small infant; weight was 1500 g (−4.5 SD), length 39 cm (−5.9 SD), head circumference (OFC) 28.3 cm (−3.7 SD), and chest circumference 25.3 cm (−4.1 SD). He had cyanosis because of persistent fetal circulation, but …

Clinical and molecular cytogenetic studies of a large de novo interstitial deletion 16q11.2-16q21 including the putative transcription factor gene SALL1.

Abstract: Editor—Interstitial deletions of the long arm of chromosome 16 share common clinical features including growth retardation, failure to thrive, microcephaly, high and prominent forehead, prominent metopic suture, large anterior fontanelle, hypertelorism, broad nasal bridge, low set and dysplastic ears, cleft palate, micrognathia, short neck, narrow thorax, broad first toes, mental retardation, muscular hypotonia, congenital heart defects, and gastrointestinal as well as renal anomalies.1 More than 26 patients with different interstitial long arm deletions of chromosome 16 have been reported.2-29 Recently, mutations in the transcription factor gene SALL1 on chromosome 16q12.130 were shown to result in Townes-Brocks syndrome, an autosomal dominantly inherited malformation syndrome characterised by malformations of the anus, hands, and ears as well as deafness.31 We describe a fetus with the 16q deletion syndrome and additional features, including unilateral radial aplasia, ulnar hypoplasia, preaxial hexadactyly, and segmentation defects of the vertebral column. Some of these features overlap with the malformations seen in Townes-Brocks syndrome. We therefore investigated the hypothesis that the SALL1 gene was included within the deletion. The 31 year old, gravida 2, para 1 (her first child is a healthy boy) was referred at 24 weeks gestation because her fetus had cleft lip and palate detected by ultrasound screening. Biometry showed asymmetrical growth retardation with a thoraco-abdominal diameter of 43 mm (<5th centile) corresponding to 19 weeks' gestation, while the BPD (60 mm) and femur length (41 mm) were within normal limits. Careful examination by ultrasound showed multiple fetal abnormalities. Dilatation of the lateral ventricles, a dilated third ventricle, and a cavum septum pellucidum were noted. Aplasia of the right radius was suspected. The left kidney was absent. The right kidney was supplied by two arteries. The heart showed tetralogy of Fallot with absent pulmonary valve, agenesis of the ductus arteriosus, …

Barber-Say syndrome: further delineation of the clinical spectrum

Abstract: We report on a 14-year-old girl who presented a multiple congenital anomaly pattern: ablepharon, hypertelorism, telecanthus, macrostomia, helix agenesis of both ears, redundant thick skin and severe hirsutism, the 5th reported case of Barber-Say syndrome. Our patient had almost the same phenotype as that of the patient cited by Martinez Santana et al. (Am. J. Med. Genet. 47: 20-23, 1993) including the same until then undescribed dermatoglyphic pattern.