Showing papers on "Hypertelorism published in 1988"

Interstitial and terminal deletions of the long arm of chromosome 4: further delineation of phenotypes.

Abstract: We reviewed 45 patients with a deletion of the long arm of chromosome 4. Forty-one were previous reports (25 terminal deletions and 16 interstitial deletions) and 4 are new cases with terminal deletions. Of the 29 patients with terminal deletions, 18 with deletion at 4q31 and 4 at 4q32----qter had an identifiable phenotype consisting of abnormal skull shape, hypertelorism, cleft palate, apparently low-set abnormal pinnae, short nose with abnormal bridge, virtually pathognomonic pointed fifth finger and nail, congenital heart and genitourinary defects, moderate-severe mental retardation, poor postnatal growth, and hypotonia. Six patients with a deletion at 4q33 and one patient with deletion 4q34 were less severely affected. In general, patients with various interstitial deletions proximal to 4q31 had a phenotype that was less specific, although mental retardation and minor craniofacial anomalies were also present. There were 3 patients with piebaldism and one with Rieger syndrome. We conclude that terminal deletion of chromosome 4q (4q31----qter) appears to produce a distinctive malformation (MCA/MR) syndrome in which the phenotype correlates with the amount of chromosome material missing and which differs from the more variable phenotype associated with interstitial deletions of 4q.

Hypomelanosis of Ito. Neurological complications in 34 cases.

Abstract: We studied 34 Spanish children with hypomelanosis of Ito This disease has an incidence of 1 per 1000 new patients consulting a paediatric neurological service, or 1 per 8000-10,000 unselected patients in a children's hospital About 94% of our patients show noncutaneous abnormalities Mental retardation (IQ below 70) was present in 647%; another 147% had an IQ between 70 and 90, usually associated with poor school performance Four children exhibited autistic behaviour Seizures of various types were present in 53% of cases Other skin alterations in addition to the typical hypomelanosis were observed in 38% of our cases: cafe-au-lait spots, angiomatous nevi, nevus marmorata, nevus of Ota, Mongolian blue spot, heterochromia of the iris or hair, and other nonspecific pigmentations Other associated disorders occur inconsistently and include macrocephaly, microcephaly, hemihypertrophy, kyphoscoliosis, coarse facial features, genital anomalies, inguinal hernia, congenital heart disease, hypertelorism, and abnormalities of the teeth, feet and eyes Autosomal dominant inheritance is demonstrated in some but not all cases

Two patients with ring chromosome 15 syndrome.

Abstract: We report on 2 patients (3 1/2 year-old-male and 6-year-old female) with the ring 15 chromosome syndrome and speech delays and review 25 cases from the literature. The main characteristics of this syndrome include growth retardation (100%), variable mental retardation (95%), microcephaly (88%), hypertelorism (46%), and triangular facies (42%). Other frequent findings include delayed bone age (75%), brachydactyly (44%), speech delay (39%), frontal bossing (36%), anomalous ears (30%), cafe-au-lait spots (30%), cryptorchidism (30%), and cardiac abnormalities (30%). The average age at diagnosis was 8.1 years. The average maternal and paternal age at the time of birth was 28 and 31 years, respectively.

Iris coloboma, ptosis, hypertelorism, andmental retardation: a new syndrome

Abstract: To sibs and an unrelated single patient have a combination of iris coloboma, ptosis, hypertelorism, broad nasal bridge, short stature, and mental retardation. The London Dysmorphology Database was used to determine whether this is a new syndrome.

Iris coloboma, ptosis, hypertelorism, and mental retardation: a new syndrome.

Abstract: To sibs and an unrelated single patient have a combination of iris coloboma, ptosis, hypertelorism, broad nasal bridge, short stature, and mental retardation. The London Dysmorphology Database was used to determine whether this is a new syndrome.

Hirschsprung disease associated with polydactyly, unilateral renal agenesis, hypertelorism, and congenital deafness: a new autosomal recessive syndrome.

Abstract: An association of Hirschsprung disease with polydactyly, unilateral renal agenesis, hypertelorism, and congenital deafness is described in sibs (brother and sister) of consanguineous parents. It is suggested that this might represent a new autosomal recessive syndrome.

Further delineation of the G syndrome: a manageable genetic cause of infantile dysphagia.

Abstract: Three families including five subjects with the G or Opitz-Frias syndrome are added to 23 published cases who had dysphagia; characteristics of the two affected relatives were added to 19 well documented published reports. The data from index cases support the concept of the G syndrome as a constellation of midline defects, which include hypertelorism or telecanthus (89%), oesophageal dysmotility (69%), laryngotracheal clefts (44%), cleft palate or bifid uvula (34%), heart defects (29%), hypospadias (100% of males), renal or ureteral anomalies (42%), and mental retardation (38%). Affected relatives, often identified by hypertelorism, dysphagia, or hypospadias, had a much lower incidence of associated defects and mental retardation. They provide a more rounded but still biased view of a syndrome compatible with normal intelligence and life span. The data do not support a highly characteristic face in the G syndrome, which discriminates it from the phenotypically similar BBB syndrome. The variable expressivity and five cases of male to male transmission observed in 18 families are consistent with autosomal dominant inheritance. Vigilance for the morphological characteristics of G syndrome in patients with dysphagia is underscored by the potential for normal development with appropriate intervention.

The acrocallosal syndrome in first cousins: widening of the spectrum of clinical features and further support for autosomal recessive inheritance.

Abstract: First cousins, related through their mothers, showed a pattern of craniofacial, brain, and limb anomalies consistent with the acrocallosal syndrome. Both patients had a defect of the corpus callosum, macrocephaly with a protruding forehead and occiput, hypertelorism, non-horizontal palpebral fissures, a small nose, notched ear lobes, and postaxial polydactyly of the hands. The boy, in addition, had hypospadias, cryptorchidism, inguinal hernias, duplication with syndactyly of the phalanges of the big toe, and a bipartite right clavicle. The girl had an arachnoidal cyst, a calvarian defect, and digitalisation of the thumbs. Motor and mental development was retarded in both patients. This observation provides further evidence of probable autosomal recessive inheritance of the acrocallosal syndrome and widens the spectrum of clinical findings and the variability of features in this rare malformation syndrome.

Lid agenesis-macrostomia-psychomotor retardation-forehead hypertrichosis--a new syndrome?

Abstract: We describe a boy with bilateral lid agenesis and total keratinization of cornea and conjunctiva, macrostomia, psychomotor retardation, forehead hypertrichosis, ocular hypertelorism, thin lips, abnormal auricles and nose, skin alterations, and other findings. Differential diagnosis with ablepharon-macrostomia syndrome is presented. Cause is unknown.

G syndrome: an unusual family.

Abstract: The G syndrome is a multiple congenital anomaly (MCA) syndrome of hypertelorism, hypospadias, stridor, and swallowing difficulties. Cleft lip and palate, cardiac defects, cranial asymmetry, and bowel obstruction are occasional manifestations. Family data suggest autosomal dominant inheritance. Males appear to have more serious manifestations, whereas most females with the G syndrome have a benign course and are ascertained through affected male relatives. In the family reported here, the proposita was first seen at age 7 weeks because of swallowing difficulties, stridor, and unusual facial appearance, reminiscent of the G syndrome. Evaluation of the family showed striking facial changes in her father and all four of his sibs. These five individuals had megalencephaly, hypertelorism, and a broad prominent nasal root and bridge, reminiscent of the facial appearance in the BBB syndrome. There was no evidence for dysphagia, respiratory abnormality, or hoarse voice in any other relative. These individuals with the G syndrome display two unusual manifestations. There are no males with hypospadias; the proposita has the most severe laryngotracheoesophageal symptoms. Although hypospadias is not an invariable manifestation of the G syndrome and although six females with severe dysphagia or respiratory abnormalities have been reported previously, the manifestations in this family underline the variability of this condition and provide further support that the G syndrome can be expressed with equal severity in both males and females. Although phenotypic overlap between the BBB and G syndromes has long been recognized, many still consider them to be distinct nosologic entities. The occurrence of both BBB and G syndrome in different members of the same family has been observed previously.(ABSTRACT TRUNCATED AT 250 WORDS)

Strabismus in craniofacial dysostosis.

Abstract: Ten infants and children who presented with craniofacial dysostosis are discussed; four had Apert's syndrome, four had Crouzon's syndrome, one had Pfeiffer's syndrome, and one had hypertelorism. The follow-up of the patients ranged from 3 months to 7 years, with an average of 19 months. Patients had bifrontal and biparietal craniectomies to correct frontal and temporal orbital retrusion, while two had left unilateral procedures only. One patient (T.S.) had had three similar procedures before he was 3 years old and patient B.B. had two before he was 11 months old due to the complete failure of bony orbital growth. Before the cranial surgery, one patient had a preexisting esotropia with bilateral congenital sixth nerve paresis, one had a V-pattern exotropia, and one had a right intermittent hypotropia due to right superior rectus weakness. In no case was there a change in the ocular alignment after infantile craniectomy. There were assorted ophthalmologic anomalies, such as congenital bilateral sixth nerve paresis, absent superior rectus function, bilateral ptosis in addition to absent superior rectus function, and two patients presented with frank and repeated exorbitism.

The 22q distal trisomy syndrome in a recombinant child.

Abstract: A 4-month-old male infant with 22q distal trisomy and karyotype 46,XY,rec(22), dup q,inv(22)(q13q12)mat is reported This and six previous similar instances are compared, and a distinct syndrome is delineated as follows: growth and psychomotor retardation, microcephaly or hydrocephaly, brain malformation, defective skull ossification, hypertelorism, narrow palpebral fissures, short broad nose, cleft palate with or without lip involvement, short neck, cardiac defect, renal and genital hypoplasia, osteoarticular abnormalities (mostly clubfoot), and poor survival In addition, this syndrome is distinct from other duplications of chromosome 22, namely the complete trisomy, the proximal trisomy, and the cat-eye phenotype

Trisomy 22 Mosaicism with Normal Blood Chromosomes Case Report with Literature Review

Abstract: A female infant with growth failure, microcephaly, hypertelorism, epicanthal folds, preauricular pit, congenital heart defect, hypotonia, and delayed development is reported. Trisomy 22 mosaicism (46,XX/47,XX,+22) was found in cultured skin fibroblasts but not in blood lymphocytes. Trisomy restricted to skin fibroblasts is uncommon.Cytogenetic evaluation of a second tissue (preferably skin) is suggested in patients with physical and mental abnormalities who have normal blood chromosome studies.

The telecanthus-hypospadias syndrome.

Abstract: The telecanthus-hypospadias (BBB) syndrome is characterised by widely spaced inner ocular canthi and hypospadias of variable degree. Heterozygous females have telecanthus. We have summarised the historical and phenotypic findings of 21 patients in seven previous publications. We have also had the opportunity to evaluate personally 12 families with a total of 18 affected males. The most frequent anomalies in patients previously reported are telecanthus 21/21, hypospadias 19/21, cleft lip/palate or uvula 7/21, high, broad nasal bridge 15/15, cranial abnormality 6/21, congenital heart defect 5/21, cryptorchidism 9/21, and mental retardation 11/17. In our series, the most frequent anomalies include telecanthus 18/18, hypospadias 18/18, cleft lip/palate or uvula 8/18, high, broad nasal bridge 10/11, cranial abnormality 12/18, congenital heart defect 3/18, upper urinary tract anomaly 4/9, and mental retardation 10/12. There is also an increased incidence of like-sex twinning, 11/18 in our families. This syndrome must be more common than reflected in published reports. Based upon the observation that males are much more severely affected than females and the lack of male to male transmission, it appears that this condition is most likely to be inherited in an X linked fashion. Further elucidation of the phenotype and documentation of the inheritance is needed. The distinction between the telecanthus-hypospadias syndrome and the G syndrome also needs further clarification.

Congenital heart defect in a patient with deletion of chromosome 7q.

Abstract: We describe a premature male infant with a terminal deletion of 7q [del(7) (pter----q34:)]. Manifestations include low birth weight, hypertelorism, bilateral cleft lip and palate, cryptorchidism, and a complex congenital heart defect. The latter consisted of hypoplasia of the main pulmonary artery, absent pulmonary valve, ventricular septal defect, and anomalous right pulmonary artery. We briefly review the spectrum of heart defects seen with chromosome 7 deletions, and comment on the incidence of this unusual heart lesion.

Ocular hypertelorism, facial basal cell carcinomas, and multiple odontogenic keratocysts of the jaws

Abstract: Dentists should be aware of the multiple jaw cysts of NBCS that may develop in patients as young as 7 to 8 years. As the jaw cysts frequently are the initial symptom, dentists have the opportunity to detect the syndrome early, before the patients seek medical treatment. Any young patient with multiple odontogenic keratocysts in the jaws can develop other conditions characteristic of the disease. A careful family history should be taken, and the patient should be monitored closely for subsequent clinical manifestations of the disease.

A new acro-cranio-facial dysostosis syndrome in sisters.

Abstract: Two sisters born to consanguineous parents had a syndrome of short stature, acrocephaly, hypertelorism, proptosis, ptosis, down-slanting palpebral fissures, high nose bridge and anteverted nares, short philtrum, cleft palate, micrognathia, abnormal external ears, preauricular pits, sensorineural and conductive deafness, proximally placed first toes and digitalized thumbs, bulbous digits, metatarsus adductus, and pectus excavatum. Radiological abnormalities included craniosynostosis, increased mandibular angle and antegonial notching of mandible; hypoplastic first metacarpals and metatarsals; hypoplastic distal phalanges; partial duplication of the distal phalanx of the thumb; malformed malleus and incus; tall lumbar vertebrae, increased interpedicular distance, and posterior scalloping; flared iliac wings, narrow supraacetabular regions, acetabular “dysplasia,” and coxa valga. Autosomal recessive inheritence is suggested.

Complete trisomy 17p a relatively new syndrome.

Abstract: A patient with a de novo duplication of 17p is described. A comparison with five other published cases indicates several features in common that seem characteristic of the syndrome. Primary features include, low birth weight, small size, severe mental and motor retardation, heart defect, failure to thrive and peculiar facial traits. The prominent facial features are, a tendency for round and flat mid face, small palpebral fissures, hypertelorism, microcephaly and low set prominent ears.

Leprechaunism: report of two cases and review.

Abstract: Two new cases of leprechaunism are reported, one of which from consanguinous parents. Both cases show the clinical picture characteristic of this syndrome: severe pre- and postnatal growth failure, psychic backwardness, lack of adipose tissue, cutis laxa; elf-like face, large ears, globular eyes, hypertelorism, micrognathia and various degrees of external genitalia hypertrophy. Endocrinologically, one of the patients shows the syndrome of low T3. The role of the endocrine alterations in the etiology of the syndrome is discussed.

Distal 14q trisomy syndrome in two siblings: further delineation of its phenotype.

Abstract: We describe two siblings with distal 14q trisomy resulting from a maternal translocation t(5;14)(p15.33;q31.2): a male newborn infant who died at the age of 1 month and a prenatally diagnosed male fetus. They showed almost identical phenotypic abnormalities. Review of the literature suggests the occurrence of a distal 14q trisomy syndrome, which is clinically characterized by mental retardation, growth failure, frontal bossing, facial asymmetry, hypertelorism, sparse eyebrows and eyelashes, short prominent nose, cupid bow upperlip, micrognathia, and low-set and posteriorly rotated ears. It seems likely that triplication of the segment 14q32.1→qter is critical for clinical manifestation of this syndrome.

An autosomal recessive disorder with retardation of growth, mental deficiency, ptosis, pectus excavatum and camptodactyly.

Abstract: Two strikingly similar brothers issued from consanguineous parents in the second degree present the following patterns of anomalies: retardation of growth, mental deficiency, ocular abnormalities, pectus excavatum and camptodactyly. The ocular abnormalities include ptosis, microphthalmia and hypertelorism. No endocrine or metabolic aberrations were found. The authors conclude that the disorder has probably an autosomal recessive mode of transmission.

Total laryngotracheal hypoplasia in a case of G syndrome.

Abstract: We report a case of congenital hypoplasia of the larynx and trachea in the presence of an essentially normal cartilaginous structure. To our knowledge this abnormality is not recognised in the literature. Previously reported hypoplastic laryngeal anomalies have all shown anatomical defects ranging from clefts to atresia (Smith and Bain 1965, Gatti et al., 1987). Similarly total congenital tracheal stenosis is accompanied by abnormalities of the cartilaginous structure, usually complete tracheal rings. These types of anomaly typically present either at, or soon after, birth and are associated with other congenital abnormalities. In this particular case the laryngotracheal hypoplasia occurred in the context of a herditary condition of multiple congenital abnormalities known as G syndrome (also known as Opitz-Frias syndrome or the Opitz-G syndrome).

Lacrimal Anomalies in Robinow's Syndrome

Abstract: To the Editor. —Robinow's (fetal face) syndrome is a form of mesomelic dwarfism characterized by hypoplastic genitalia; atypical facies, with a flat profile, prominent forehead, hypoplastic mandible, hypertelorism, long philtrum, and short, flat upturned nose; and an increased tendency for infections. 1 We herein report a case of Robinow's syndrome with bilateral atresia of the ostium lacrimale and absent upper lacrimal canaliculi and puncta. Report of a Case. —A 9-month-old black female infant with a negative family history and bilateral epiphora since birth had macrocrania, a large anterior fontanelle, frontal bossing, hypertelorism, a small mouth, a flat facial profile, a long philtrum (Fig 1), hyperplastic alveolar ridges, a small upturned nose, a hypoplastic clitoris, short forearms, absence of the upper lacrimal puncta, and bilateral chronic purulent dacryocystitis. Refraction and slit-lamp biomicroscopic, ophthalmoscopic, and tonometric examinations were otherwise unremarkable. After ten days of conservative treatment, she developed a Streptococcus pneumoniae , acute

Endocrinological studies in the hypertelorism-hypospadias (BBB) syndrome.

Abstract: Istituto di Pediatria Clinica e Preventiva, Universith di Bari, 1-70124 Bari, Italy 5. Opitz JM, Summitt RL, Smith DW (1969) The BBB syndrome. Familial telecanthus with associated congenital anomalies. The clinical delineation of birth defects. II. Malformation syndromes. Birth Defects 5 : 86-94 6. Shima H, Ikoma F, Yabumoto H, Mori M, Sato Y, Terakawa T, Fukuchi M (1986) Gonadotropin and testosterone response in prepubertal boys with hypospadias. J Urol 135 : 539-542

Theacrocallosal syndrome infirst cousins: widening ofthespectrumofclinical features andfurther supportforautosomal recessive inheritance

Abstract: SUMMARY First cousins, related through their mothers, showed a patternofcraniofacial, brain, andlimbanomalies consistent withtheacrocallosal syndrome. Bothpatients hadadefect ofthecorpuscallosum, macrocephaly with a protruding forehead andocciput, hypertelorism, non-horizontal palpebral fissures, a small nose,notched earlobes, andpostaxial polydactyly of thehands. Theboy,inaddition, hadhypospadias, cryptorchidism, inguinal hernias, duplication withsyndactyly ofthephalanges ofthebigtoe,anda bipartite right clavicle. Thegirl hadan arachnoidal cyst,a calvarian defect, anddigitalisation ofthethumbs. Motorandmental development was retarded inbothpatients. Thisobservation provides further evidence of probable autosomal recessive inheritance oftheacrocallosal syndrome andwidens thespectrum ofclinical findings andthevariability offeatures inthis raremalformation syndrome.

HIV Embryopathy and Neurocristopathies

Abstract: Sir .—Marion et al 1 have pointed out (1) facial dysmorphism in embryopathy due to human immunodeficiency virus (HIV) and (2) a defect in the immune T-cell system in isotretinoin embryopathy. 2 My colleagues and I too have observed the presence of facial dysmorphism in acquired immunodeficiency syndrome (AIDS) embryopathy and have hypothesized a similar defect embryopathy caused by hypervitaminosis A. 3 My colleagues and I believe that AIDS and the isotretinoin embryopathies can be included in a more comprehensive syndromic picture, ie, in neurocristopathies that may or may not be linked to chromosomal anomalies (eg, trisomy 13, mosaic monosomy C, fetal alcohol syndrome, Aicardi's syndrome, and de Lange's syndrome), 3 with defects in the T-cell system and facial dysmorphism. There are common characteristics (eg, intrauterine birth defect, microencephalia, prominent forehead, hypertelorism, epicanthal folds, antimongoloid slant of the palpebral fissures, anomalies of the auricle, broad-based nose, saddle nose, micrognathia, and

Hirschsprung disease associated withpolydactyly, unilateral renal agenesis, hypertelorism, andcongenital deafness: anewautosomal recessive syndrome

Abstract: An association of Hirschsprung disease with polydactyly, unilateral renal agenesis, hypertelorism, and congenital deafness is described in sibs (brother and sister) of consanguineous parents. It is suggested that this might represent a new autosomal recessive syndrome.