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At least 649 records · Page 36Linked to original sources
PubMed2004

Short stature, sensorineural deafness, ocular abnormalities and severe mental retardation in two siblings. A new syndrome?

We describe a brother and sister with craniofacial dysmorphism, short stature, relative obesity, sensorineural deafness, multiple pigmented naevi and severe mental retardation. One sibling had keratoconus and the other had an iris coloboma. Dysmorphic features included brachycephaly, hypotelorism, small mouth, thin lips, pterygium colli, broad chest, widely spaced nipples and cutaneous second and third toe syndactyly. The children demonstrate some features of Noonan syndrome, but we believe that they have a different and distinctive phenotype. We have reviewed similar cases in the literature and discuss these in the context of our cases, who may have a previously undescribed syndrome.

Abnormalities, Multiple↗
PubMed2006

Multiple periorbital dermoid cysts, clefting and mental retardation: a new malformation syndrome?

We report a child with multiple anomalies that was born to healthy nonconsanguineous parents after an unremarkable pregnancy. The female infant had bilateral cleft lip and palate, bilateral toe syndactyly (second and third with no bony fusion), multiple bilateral periorbital tumors, ectropion, lagophthalmos, strabismus and prominent eyes. High frontal hairline and everted lower lip were also noted. Soon after delivery, she was referred to the 'Cleft Clinic' where she underwent cleft lip and palate repair. Seven dermoid cysts were also removed from both periorbital areas. Follow-up documented moderate developmental retardation, hypothyroidism and hydronephrosis. Although some features of our patient overlap with those described in ectrodactyly, ectodermal dysplasia and cleft lip/palate, Martinez, Zlotogora-Ogur, Filippi, Freihofer and Blepharocheilodontic syndromes, our patient has a combination of features not previously reported.

Abnormalities, Multiple↗
PubMed2006

Acro-dermato-ungual-lacrimal-tooth-like syndrome: report of a family with variable expression.

We report the case of a young boy with fine hair, mild nail dysplasia, blocked nasolacrimal ducts, absence of central incisors, bilateral oligodactyly of feet and anal stenosis. His father showed the same spectrum of anomalies with mild expression. He had mild nail dysplasia, blocked nasolacrimal ducts, inferior dental cysts with consequent premature tooth loss, frequent dental decays consequent to enamel abnormality and cutaneous syndactyly of the second and third right toe. The acro-dermato-ungual-lacrimal-tooth syndrome was suspected and molecular analysis of the P63 gene was performed, but no mutation was found. Although P63 gene analysis was negative, we think that both cases show clinical overlap with the acro-dermato-ungual-lacrimal-tooth syndrome and confirm the wide expression of this condition, even in the same family.

Abnormalities, Multiple↗
PubMed1993

The anaesthetic management of patients with dystrophic epidermolysis bullosa. A review of 44 patients over a 10 year period.

The case notes and anaesthetic charts of 44 patients with dystrophic epidermolysis bullosa were reviewed retrospectively. A total of 390 general anaesthetics were performed for 469 surgical procedures over a 10-year period. Procedures included repair of syndactyly, dilatation of oesophageal strictures, extraction of teeth, excision of skin tumours and other procedures related to dystrophic epidermolysis bullosa. Anaemia, thrombocytosis and hypoalbuminaemia was found in many patients pre-operatively. Damage to skin or mucosa occurred peri-operatively. Four patients developed bullae around the head and neck, two patients developed oral or pharyngeal bullae and three patients developed conjunctival abrasions including one with a new corneal ulcer. There were no reports of laryngeal bullae and no bullae associated with intramuscular injections or the use of limb tourniquets. Thirty-one patients (70%) had evidence of oesophageal strictures and six regurgitated peri-operatively. In all cases there was a history of oesophageal disease. In 10 patients (23%) intubation of the trachea was difficult. It was carried out by various methods including blind nasal and fibreoptic intubation or by using the laryngeal mask airway. One patient requiring a series of general anaesthetics had a tracheostomy formed after fibreoptic intubation. Previous reports have suggested problems with the use of suxamethonium, nondepolarising muscle relaxants and thiopentone. These agents were all used in many of our patients without any adverse effects. There was one intra-operative death in a 35-year-old woman having an oesophageal dilatation which was complicated by oesophageal rupture.

Adolescent↗
PubMed1994

Two cases of congenital dyserythropoietic anaemia type I associated with unusual skeletal abnormalities of the limbs.

This report describes the cases of two young female patients with congenital dyserythropoietic anaemia (CDA) type I who presented similar hand and foot skeletal abnormalities: lack of distal phalanges and nails, and syndactyly. Up to now, some morphological malformations have been described in association with CDA type I but there is no report of skeletal defects. These two cases are suggestive of a possible association between this hereditary anaemia and specific skeletal abnormalities of the distal extremities.

Abnormalities, Multiple↗
PubMed2006

Apert syndrome.

Apert syndrome or acrocephalosyndactyly is a rare autosomal dominant malformation syndrome characterized by craniosynostosis, symmetric severe syndactyly, and a variety of abnormalities of the skin, skeleton, brain, and visceral organs. A case of Apert syndrome and the clinical and specific cutaneous manifestations of this condition are reviewed.

Acrocephalosyndactylia↗
PubMed1976

Ectodermal dysplasia, mental retardation, cleft lip/palate and other anomalies in three sibs.

Three females in a sibship of 10 have a syndrome of mental retardation, ectodermal dysplasia, and cleft lip and/or cleft palate. Inconstant features are congenital skin defects, areas of hyperpigmentation, congenital adhesions between the eyelids, cicatricial atrophy of the scalp, abnormal E.E.G., partial anodontia, genital hypoplasia, syndactyly, and delayed skeletal growth and maturation. The mode of inheritance could be either dominant with incomplete penetrance, or autosomal recessive. The disorder has overlapping features with several previously delineated syndromes but in view of certain novel features its relationship to these is uncertain.

Abnormalities, Multiple↗
PubMed1976

Triploidy syndrome. A report on two live-born (69, XXY) and one still-born (69, XXX) infants.

Two live-born cases, 69,XXY and one stillbirth, 69,XXX are reported. Further evidence is presented to delineate the triploidy syndrome. Common external and internal features which characterize the triploidy syndrome are low-set ears, hypertelorism, colobomata, syndactyly, simian creases, microphallus, undescended testes, scrotal aplasia, anomalous heart and hypoplasia of kidneys and adrenals. The triploidy syndrome encompasses features found in trisomies 13, 18 and 21. We suggest that the abnormal development of the triploidy infants is the result of the mentioned trisomies and their subsequent effect on the remaining genome.

Abnormalities, Multiple↗
PubMed1976

Three siblings with Robert's syndrome.

A Yugoslavian family with one female and two male infants with Robert's syndrome is described. The main features were: (1) tetraphocomelia with missing or malformed bones of arms and legs; (2) bilateral cleft lip and palate; (3) ectrodactyly; (4) syndactyly of the digits; (5) hypertelorism with exophthalmos at birth; (6) congenital heart defect; (7) low birth weight and failure to thrive. These observations raise the reported cases of Robert's syndrome--including questionable ones--to a total of 26. The most likely basic etiology is a major single recessive gene mutation.

Abnormalities, Multiple↗
PubMed1977

Sclerosteosis - an autosomal recessive disorder.

Sclerosteosis is a rare, potentially lethal skeletal disorder in which massive bony over-growth leads to facial distortion, cranial nerve compression and progressive rise in intracranial pressure. Gigantism and syndactyly of the 2nd and 3rd fingers are associated features. In a nationwide investigation in South Africa, 25 affected individuals in 15 Afrikaner kindreds have been studied. The minimum prevalence of the contition in this community is 1 in 75,000. Analysis of pedigree data confirms that sclerosteosis is an autosomal recessive condition. The gene frequency in the Afrikaner people is estimated at 0.0035, with 10,000 clinically normal heterozygotes in this population. Heterozygote detection may be possible on a basis of recognition of minor changes which are apparent on skull radiographs.

Abnormalities, Multiple↗
PubMed1984

The syndromic status of sclerosteosis and van Buchem disease.

We have examined 50 persons with sclerosteosis in the Afrikaner community of South Africa and 15 individuals with van Buchem disease in Holland. The clinical and radiographic manifestations of these conditions are very similar, the only notable differences being greater severity and syndactyly in the majority of the patients with sclerosteosis. The Afrikaners have Dutch antecedants and it seems likely that these autosomal recessive disorders result from homozygosity of the same faulty genes. The phenotypic variation may be due to the epistatic effect of modifying genes in the Afrikaner population.

Adult↗
PubMed1997

An additional case of craniodigital syndrome: variable expression of the Filippi syndrome?

We report on a boy with severe growth and mental retardation, syndactyly of toes and facial anomalies. This phenotype can easily be classified in the group of craniodigital syndromes, but it is difficult to make a more clearly defined diagnosis, based on other minor anomalies, because of the presence of overlapping features. On the basis of various pathognomic features, we conclude that our patient could be an additional case of Filippi syndrome. Moreover, newly recognised features in this patient may be due to variability in phenotypic expression.

Abnormalities, Multiple↗
PubMed1992

Focal dermal hypoplasia (Goltz syndrome): report of two cases with minor cutaneous and extracutaneous manifestations.

Two women, ages 33 and 16 years, had focal dermal hypoplasia (Goltz syndrome) with unusual, minimal clinical manifestations. The lesions consisted of patchy, atrophic, scaly, telangiectatic macules arranged in a linear pattern along Blaschko's lines, involving the anterior and lateral aspects of both legs (patient 1) and the anterolateral aspect of the left leg (patient 2). Type I partial syndactyly involving the second and the third toes in both patients was also present. The clinical and histopathologic features and diagnostic difficulties of cases of this disorder with minimal cutaneous and extracutaneous manifestations are discussed.

Adolescent↗
PubMed1977

Infantile convulsions: transient infantile hypocalcemia associated with skeletal deformities.

An infant with skeletal deformities and hypocalcemic convulsions is described. The convulsions, which were first noted in the 5th week of life, as well as the low serum calcium level were transient. The skeletal deformities consited of deformation of the terminal phalanges of the right third finger and right second toe, syndactyly of the third and fourth finger of both hands and left pes equinovarus. X-ray examination revealed abnormal shape and structure of some bones of the hands. The most likely diagnosis is transient congenital idiopathic hypoparathyroidism, which has not yet been described in association with congenital skeletal anomalies.

Abnormalities, Multiple↗
PubMed1981

A newborn infant with craniofacial dysmorphism and polysyndactyly (Greig's syndrome).

A newborn infant with craniofacial dysmorphism and polysndactyly (Greig's Syndrome) is reported. This syndrome is manifested by postaxial polydactyly of the fingers and preaxial polydactyly of the toes, with syndactyly. The craniofacial dysmorphism is characterized by frontal bossing and other variable manifestations. X-ray examination revealed markedly advanced bone age. The mode of inheritance appears to be autosomal dominant.

Abnormalities, Multiple↗
PubMed1983

Association of ectodermal dysplasia, ectrodactyly, and macular dystrophy: the EEM syndrome.

We report five patients with ectodermal dysplasia, ectrodactyly associated with syndactyly or cleft hand or both, and, in addition, macular dystrophy which was presumed to be progressive, in an isolated population on a remote island in Japan. The heredity of this syndrome was thought to be autosomal recessive. Three cases have been reported so far with a combination of the same abnormalities. The parents in these cases were consanguineous.

Adolescent↗