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PubMed1988

Amniotic band syndrome.

The amniotic band syndrome (ABS) refers to the infrequent occurrence of congenital deformities presumably due to fetal entanglement in strands of ruptured amniotic sac. The most commonly associated anomalies include amputations, constriction bands, syndactyly, craniofacial defects, club feet, and cleft lip. We present a typical case and short literature review of ABS. The infant reported also had a connective tissue nevus and a cutaneous striated muscle hamartoma.

Abdominal Injuries↗
PubMed1985

Trismus-pseudocamptodactyly syndrome in a Japanese family.

A family in which five individuals through three generations were affected with trismus-pseudocamptodactyly syndrome is reported. The propositus, an 8-year-old boy, had a right embedded ear, inability to open the mouth fully, pseudocamptodactyly and soft tissue syndactyly of the toes. His paternal grandmother, father, paternal uncle and his paternal cousin had pseudocamptodactyly. The occurrence of the syndrome in this Japanese family indicates that the syndrome is not exclusively of Dutch origin.

Adult↗
PubMed1986

A family with craniofrontonasal dysplasia, and fragile site 12q13 segregating independently.

Coronal craniosynostosis, hypertelorism, telecanthus, broad grooved nasal tip, dental anomalies, mild syndactyly and broad thumbs, consistent with craniofrontonasal dysplasia are described in a family of four affected females over three generations. Documentation of the family is of interest because of variable clinical features and an excess of affected females. The excess of females observed in this condition is as yet unexplained, but cannot be referred simply to X-linked dominance with lethality in the male. Autosomal dominance with less frequent and less severe expression in the male is more tenable. Chromosome analysis on two affected family members revealed a fragile site at 12q13, which was also found in a phenotypically normal family member. A third affected individual did not exhibit this fragile site. Thus it appears that there is a heritable fragile 12q13 site segregating in this family separately from the gene for craniofrontonasal dysplasia.

Abnormalities, Multiple↗
PubMed1988

6q1 monosomy: a distinctive syndrome.

A female infant with a de novo del 6q14q16.2 and five other patients with del 6q1 reported in the literature allow the delineation of a characteristic syndrome, the main features of which are: severe mental retardation, a round face with full cheeks, upslanting palpebral fissures, a short neck, umbilical hernia, malpositioned feet with syndactyly II-III, and typical dermatoglyphics with an excess of whorls and clinodactyly of the Vth finger.

Abnormalities, Multiple↗
PubMed1988

A new family with the Townes-Brocks syndrome.

We describe a new family with the Townes-Brocks syndrome, a dominantly inherited syndrome of anal, urorenal, ear and limb malformations. The proband shows the full spectrum of anomalies, including imperforate anus, prominent perineal raphe, rectoperineal fistula, triphalangeal thumb, preaxial hexadactyly, syndactyly, clinodactyly, preauricular protuberances, hypoplastic satyr ears, sensorineural hearing loss and urorenal anomalies. In contrast, the father shows only limb anomalies, sensorineural hearing loss and renal anomalies. Anorectal malformations, which are present in almost every patient with the Townes-Brocks syndrome, were absent in the father. This case report illustrates the intrafamilial variability of the Townes-Brocks syndrome. Consequently, careful examination of relatives of patients with this syndrome is necessary for the differential diagnosis with the sporadically inherited VA(C)TER(L) association.

Abnormalities, Multiple↗
PubMed1990

The Proteus syndrome: association with nephrogenic diabetes insipidus.

In this report we present the first case of Proteus syndrome associated with nephrogenic diabetes insipidus. The case is a 9-month-old girl, with macrodactyly of both feet and left hand, syndactyly of the 3rd and 4th fingers of the left hand, soft tissue masses in the paravertebral and gluteal regions, and a hyperpigmented epidermal nevus with hyperkeratosis on the left half of the body.

Diabetes Insipidus↗
PubMed1990

The wrinkly skin syndrome: a report of a case and review of the literature.

A 2 1/2-year-old boy born of Jewish Moroccan parents is reported with physical findings of wrinkled skin on the dorsum of the hands and feet, with poor skin elasticity, syndactyly, mild kyphosis and poor muscle tone, the diagnosis being the wrinkly skin syndrome. All reported cases of this heritable disorder of connective tissue are reviewed and discussed in terms of genetics, ethnic clustering and differential diagnosis.

Child, Preschool↗
PubMed1991

Monozygotic twin girls with diploid/triploid chromosome mosaicism and cutaneous pigmentary dysplasia.

Diploid/triploid mosaicism is an uncommon clinical syndrome with a subtle but distinctive phenotype. Characteristic features include prenatal and postnatal asymmetric growth deficiency, triangular and/or asymmetric facies, micrognathia, finger and/or toe syndactyly, clinodactyly, single transverse palmar creases, male genital anomalies, hypotonia and psychomotor retardation. This disorder is underdiagnosed because in 70% of cases the triploid cell line is only seen in fibroblasts. In cases in which a triploid cell line is found in lymphocytes, it usually occurs in less than 5% of cells. While some reports of diploid/triploid mosaicism have mentioned unusual skin pigmentary patterns, including hypomelanosis of Ito, it was only recently recognized that this is a helpful diagnostic clue in mosaic chromosome disorders. We report monozygotic twin girls with diploid/triploid mosaicism whose cutaneous pigmentary dysplasia led to their diagnosis.

Abnormalities, Multiple↗
PubMed1991

Ectrodactyly-ectodermal dysplasia-clefting syndrome (EEC): the clinical variation and prenatal diagnosis.

Six patients with the ectrodactyly-ectodermal dysplasia-clefting (EEC) syndrome, namely five members of the same family and one sporadic case, are presented. One of the main features of the EEC syndrome, ectrodactyly, was missing in five of the patients. The diagnosis did not become clear until the youngest son of the family was born. All of our six patients had a low birth weight and some were born preterm, and four had poly- and/or syndactyly without ectrodactyly. A low birth weight and polysyndactyly have been reported previously in patients with the EEC syndrome and might be features of the syndrome. The present patients illustrate the great phenotypic variability in the EEC syndrome and the need for a careful search for microsymptoms in potential gene-carriers. In two members of the affected family, EEC syndrome was diagnosed prenatally after 16 weeks of gestation by detection of the cleft lip and palate on ultrasound examination. The mother chose to continue the pregnancies. However, prenatal diagnosis of cleft lip and palate might be of value in genetic counselling for other inherited syndromes leading to severe disability.

Adult↗
PubMed1995

A new syndrome with cardiac malformation, cleft lip-palate, microcephaly and digital anomalies?

A family with cardiac malformation, cleft lip-palate, short stature, microcephaly, distally placed thumbs, short 2nd and 5th fingers, long and broad 1st toes, broad distance between 1st and 2nd toes and mediodorsal curvature of the 4th toes with syndactyly of the 2nd and 3rd toes has been described as having a new syndrome. While some members of the family had full signs of the syndrome, others had similar but fewer and less severe anomalies of the same structures. The presence of common findings in three generations, its variable expressivity and pleiotropism, and the non-consanguineous history in the parents suggest that the inheritance is autosomal dominant.

Abnormalities, Multiple↗
PubMed1995

Gorlin-Chaudhry-Moss or Saethre-Chotzen syndrome?

We report a 2-year-old girl with craniosynostosis, an ossification defect of the cranial vault, midface hypoplasia, low frontal hairline, anti-mongoloid slant of the palpebral fissures, ptosis of the lateral upper lids and high-arched narrow palate. There are additional findings fitting the Gorlin-Chaudhry-Moss syndrome, such as hypoplasia of the labia majora, hypoplasia of the distal phalanges of fingers and toes and conductive hearing loss, but hypertrichosis and dental anomalies are missing, which were described in the four females previously reported with the probably autosomal recessive Gorlin-Chaudhry-Moss syndrome. Since the autosomal dominant Saethre-Chotzen syndrome may show similar cranio-facial features, short fingers with non-obligatory cutaneous syndactyly, and ossification defects of the cranial vault, the Saethre-Chotzen syndrome should also be considered in our patient.

Abnormalities, Multiple↗
PubMed1996

Fanconi anemia complementation group E: clinical and cytogenetic data of the first patient.

The clinical and cytogenetic data of the first patient proven to belong to the fifth Fanconi anemia complementation group are described. The Turkish boy presented with psychomotoric retardation, growth retardation, retarded bone age, brachycephaly, hypotelorism, epicanthus, syndactyly, brachydactyly, renal dystopia, and cryptorchism. In addition, an asymmetrical skeletal anomaly was seen with a double distal phalanx of the left thumb and hypoplasia of the right thumb. Typical hematological features of the disorder developed, at the age of 2.5 years, about 1 year after diagnosis. Cytogenetic studies confirmed the clinical diagnosis and revealed a spontaneous chromosomal instability and hypersensitivity to the cross-linking agents diepoxybutane and Trenimon. The findings in the patient, who is considered to be the standard for the fifth Fanconi anemia complementation group, are compared with data reported for other patients affected with Fanconi anemia.

Cell Line, Transformed↗
PubMed1998

Sclerosteosis: report of a case in a black African man.

Sclerosteosis is a rare genetic disorder of bone modelling, similar to, but distinct from, van Buchem disease; it has been described almost exclusively in Afrikaners of South Africa, a white population of Dutch ancestry. Isolated cases have been reported in a girl in Japan, a boy in Spain, and in multiracial families in Brazil and USA. Here we report a case of sclerosteosis in a black man born in Senegal. He presented with the full features of the disease: tall stature; syndactyly: nail dysplasia; massive sclerosis of the long tubular bones, the ribs, the pelvis and the skull; multiple cranial nerve involvement: optic atrophy, facial palsy and trigeminal neuralgia. Radiologic examination, visual and brainstem auditory evoked potentials, computerized tomography and magnetic resonance imaging of the skull were performed. This seems to be the first case of the disease in a black African individual, with no known relationship with Dutch ancestry.

Abnormalities, Multiple↗
PubMed2005

Fine mapping of the X-linked split-hand/split-foot malformation (SHFM2) locus to a 5.1-Mb region on Xq26.3 and analysis of candidate genes.

Split-hand/split-foot malformation (SHFM) is a genetically heterogeneous disorder, with five known loci, that causes a lack of median digital rays, syndactyly, and aplasia or hypoplasia of the phalanges, metacarpals, and metatarsals. In the only known SHFM2 family, affected males and homozygous females exhibit monodactyly or bidactyly of the hands and lobster-claw feet. This family (1) was revisited to include additional subjects and genealogical data. All 39 affected males and three females fully expressed the SHFM, while 13 carrier females examined exhibited partial expression of SHFM. We narrowed the previously linked 22-Mb genetic interval on Xq24-q26 (2), by analyzing additional family members and typing additional markers. The results define a 5.1-Mb region with a new centromeric boundary at DXS1114 and a telomeric boundary at DXS1192. We did not identify mutations in the exons and exon/intron boundaries of 19 candidate genes. These data suggest that the mutation may lie in a regulatory region of one of these candidate genes or in another gene within the SHFM2 region with unclear role in limb development.

Abnormalities, Multiple↗
PubMed2005

Mitochondrial DNA mutations in a patient with sex reversal and clinical features consistent with Fraser syndrome.

We describe a 20-year-old 46,XY woman, with clinical findings of Fraser syndrome and three mitochondrial DNA (mtDNA) mutations of Leber hereditary optic neuropathy. The patient had microphthalmia, blindness, widely spaced nipples, bifid ureter, syndactyly of the toes, and mental retardation. Sonography showed the presence of a uterus and intra-abdominal gonads. The proband was screened for mtDNA mutations because of chronic gastrointestinal pseudo-obstruction, urinary tract dysmotility, seizures, mental retardation and persistent macrocytosis, as well as the intermittent elevation of methylmalonic acid. Analysis of point mutations by multiplex polymerase chain reaction and allele-specific oligonucleotide dot-blot hybridization revealed three homoplasmic mtDNA mutations, T14484C, T4216C, and T3394C. This represents a unique case with sex reversal, Fraser-like syndrome, and mitochondrial disease.

Abnormalities, Multiple↗
PubMed2005

Familial progressive sinoatrial and atrioventricular conduction disease of adult onset with sudden death, dilated cardiomyopathy, and brachydactyly. A new type of heart-hand syndrome?

We identified a family with 10 affected members in four generations suffering from adult-onset progressive sinoatrial and atrioventricular conduction disease, sudden death due to ventricular tachyarrhythmia, dilated cardiomyopathy, and a unique type of brachydactyly with mild hand involvement (short distal, middle, proximal phalanges and clinodactyly) and more severe foot involvement (short distal, proximal phalanges and metatarsal bones, short or absent middle phalanges, terminal symphalangism, duplication of the bases of the second metatarsals, extra ossicles, and syndactyly). The phenotype differences from other reported genetic abnormalities and linkage exclusion of Holt-Oram syndrome, ulnar-mammary syndrome, brachydactyly type B or Robinow syndrome, and cardiac conduction disease or Brugada syndrome loci suggest that we report on a new hereditary heart-hand syndrome.

Adult↗
PubMed1994

Anonychia of all toes with absence of phalangeal bones.

A ten year old girl suffered from anonychia of all toes, present from birth. The absence of nails was accompanied by absence of one or two phalangeal bones in toes other than the big toes. Other abnormalities consisted of short toes, incomplete syndactyly of the 2nd and 3rd toes of each foot and transfer of the dermatoglyphics from the plantar to the dorsal surface of the digits. The combined defect of the nails and the phalangeal bones can be explained by the close relationship of the two structures during the morphogenesis of the digits.

Abnormalities, Multiple↗
PubMed1982

Cloverleaf skull syndrome. An autopsy case and review of literature.

An autopsy case of cloverleaf skull deformity associated with hydrocephalus, systemic skeletal malformation including facial dysostosis, fused elbow, syndactyly of the toes, odd digits and striking anomaly of tracheal cartilage is presented. Extra-skeletal abnormalities included covered anus, dermal sinus and the absence of corpus callosum and the septum pellucidum. Several basal skull deformity appeared to be a primary morphologic alteration associated with premature closure of the specific sutures, which terminally resulted in life-threatening hydrocephalus. Histological investigation showed the abnormalities of endochondral ossification in the cartilage at the epi- and meta-physis of the fused elbows. In addition, electron microscopical study revealed unusual fat droplet-containing chondrocytes even in the resting and multiplicative phase. Association of the tracheal anomaly with this syndrome was disclosed in this case. Generalized bone and cartilage abnormalities not only in the skeletal system but also in the internal organs strongly suggest that this disorder involves generalized osteocartilagenous system. The present case makes a total of 14 cases of the cloverleaf skull syndrome reported in the Japanese literatures to date. Major clinical and pathologic findings of these cases were summerized.

Abnormalities, Multiple↗