Associated acral and renal malformations: a new syndrome?
TL;DR: A 7-year-old male with associated anomalies of the limbs and urinary tract, very similar to three previously reported patients, is described, and a new syndromic (acro-renal) relationship of unknown etiology has been established.
Abstract: A 7-year-old male with associated anomalies of the limbs and urinary tract, very similar to three previously reported patients, is described. Acral malformations noted in the four patients have been oligodactyly, ectrodactyly, brachydactyly, and polydactyly in varying but characteristic combination. A pattern of distribution of the limb defects has been evident. The limb anomalies in the present case are a composite of those described in the previously reported patients. Urinary tract abnormalities include unilateral renal agenesis and duplication of the collecting system. Minor anomalies present in two or more patients were arched palate, sternal deformity, hypoplastic auricular helices, widely spaced teeth, coxa valga, cinodactyly of the fifth finger, hypospadias, cryptorchidism, antimongoloid slanting of palpebral fissures. Findings not previously reported were Brushfield9s spots, vertically grooved nasal tip, deficient pectoralis major muscle, hypoplastic twelfth ribs, spina bifida occulta of L5. All patients have been phenotypic males, with increased paternal reproductive age in three. The authors suggest that a new syndromic (acro-renal) relationship of unknown etiology has been established.
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TL;DR: The genetic aspects, clinical manifestations, and differential diagnosis of the syndromes involving ectodermal dysplasia/limb anomalies and cleft lip/palate are discussed.
Abstract: We report on 20 Brazilian patients (11 sporadic and 9 familial cases) with the ectrodactyly, ectodermal dysplasia, clefting syndrome (EEC syndrome). Genetic aspects, clinical manifestations, and differential diagnosis of the syndromes involving ectodermal dysplasia/limb anomalies and cleft lip/palate are discussed.
90 citations
TL;DR: Man’s experience of congenital malformations antedates recorded history and can be inferred from philology and the most ancient of legends, meaning that even during phylogeny man lived side by side with mammalian cousins affected with homologous forms of his own genetic aberrations.
Abstract: Man’s experience of congenital malformations antedates recorded history and can be inferred from philology and the most ancient of legends. Indeed, the presence of Down syndrome in the chimpanzee (McClure et al., 1969, 1970) and of various X-linked disorders in other mammals (Ohno, 1967) means that even during phylogeny man lived side by side with mammalian cousins affected with homologous forms of his own genetic aberrations. The history of teratology has been written many times and is astoundingly voluminous (Gruber, 1964). It shows that the accomplishments of the early workers in the field consisted primarily of anatomical and clinical descriptions.
56 citations
TL;DR: A community of six syndromes, four of them apparently rare, is proposed; all share uterovaginal malformation, but neither this type nor any other single type of malformation is essential for a syndrome to merit membership in the community.
Abstract: “Syndrome fever” is a term used to characterize the prolific publication of “new” human congenital malformation syndromes in the last decade. One way to manage syndrome fever, that is, to assimilate and utilize efficiently its valuable informational by-product, is to create nosologic communities composed of member-syndromes which have close general and specific phenotypic similarities. The phenotypic community approach to human mal-formation syndrome taxonomy is applicable to rare, family-specific syndromes, to well-known syndromes that have achieved firm, independent identities, and to mixtures of the two. A community of six syndromes, four of them apparently rare, is proposed. All share uterovaginal malformation, but neither this type nor any other single type of malformation is essential for a syndrome to merit membership in the community. Five of the six syndromes have distinc-tive and and/or foot malformations. Four of the six share malformations of the urinary tract; in a fifth urinary incontinence probably reflects a subtle dysmorphism. Three of the six syndromes have anomalies of the aural appa-ratus; in two this involves an association between severe renal dysgenesis and middle ear ossicle defects. The sharing of similar malformations involving several systems suggests that the respective causes of the syndromes act on the same developmental pathway(S). All six syndromes have occurred in a familial distribution; four are probably determined by major mendelian genes. Malformations of the axial skeleton are rare, but those of the distal extremities are common, in the familial syndromes belonging to the group. The reciprocal tendency is found in sporadic occurrences of severe uterovaginal dysgenesis (Rokitansky-Kuster-Hauser syndrome) and in those with so-called nonspecific female pseudohermaphroditism.
53 citations
TL;DR: The patterns of acrorenal associations seen in over 1,500,000 infants born in Hungary in 1975-1984 are documented to reflect differences in the nature and magnitude of the underlying dysmorphogenetic processes as well as the timing of their effects.
Abstract: Limb and urinary tract defects have frequently been reported to occur together as components of a single acrorenal field defect or in many multiple malformation syndromes. However, the concordance of such anomalies has rarely been studied on a population basis or the relationships between specific limb and renal defects defined. This paper documents the patterns of acrorenal associations seen in over 1,500,000 infants born in Hungary in 1975-1984. In all, 1 in 1,800 infants had a limb deficiency and 9% of these (75 cases) had a urinary tract anomaly. Urinary tract anomalies were most commonly seen with radial ray defects, micromelia and amelia. The commonest recognized patterns were VACTERL association and the cloacal exstrophy and caudal regression sequences. Chromosomal and single gene defects also occurred. Numerical taxonomic techniques delineated six main clusters of patients. Important groupings included micromelia with renal agenesis, split hand/foot with hydronephrosis, and radial ray anomalies with VACTERL defects. The radial ray groups differed in the nature of the VACTERL anomalies seen and with respect to laterality, symmetry, and non-VACTERL anomalies. There was a strong association of bilateral limb defects with bilateral renal anomalies and unilateral with unilateral. Ipsilateral defects tended to occur in typical VACTERL cases, while contralateral defects tended to occur with additional non VACTERL midline anomalies. Although renal and limb anomalies are associated, in almost all cases malformations in other systems are also present. The precise nature of the malformation patterns seen appear to reflect differences in the nature and magnitude of the underlying dysmorphogenetic processes as well as the timing of their effects.
48 citations
TL;DR: An argument is presented for grouping this patient with other patients with lobster claw defect, ectodermal defects and tear duct anomalies who also have cleft lip‐palate and are classified as having the EEC syndrome.
Abstract: A patient with the lobster claw defect, ectodermal defect, and tear duct and renal anomalies is described. An argument is presented for grouping this patient with other patients with lobster claw defect, ectodermal defects and tear duct anomalies who also have cleft lip-palate and are classified as having the EEC syndrome
47 citations