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PubMed1995

A patient with WT syndrome and Castleman disease.

WT syndrome, an autosomal dominant condition, combines hematological abnormalities with mild lib defects. Anemia, pancytopenia, leukemia and lymphoma can occur at varying ages from childhood to middle age. Limb defects include ulnar and radial defects, bifid or hypoplastic thumbs and cutaneous syndactyly. Castleman disease is characterized by tumorous masses of lymphoid tissue showing plasma cell or hyaline vascular type changes in histological specimens. A 13 year old boy, diagnosed as WT syndrome with ulnar and radial deviation and 5th finger clinodactyly also had neutropenia, cervical and mediastinal lymphadenopathy. Histology of the cervical lymph node showed angiofollicular hyperplasia of the hyaline-vascular type (Castleman disease). This interesting patient is reported because Castleman disease, together with WT syndrome has not been previously described.

Adolescent↗
PubMed1998

Children with Apert syndrome: behavioural problems and family stress.

Apert syndrome is characterized by severe craniosynostosis, midface hypoplasia, and symmetric syndactyly of the hands and sometimes of the feet. In this study, postal questionnaires were completed by parents of 41 children with Apert syndrome. Data from this preliminary survey revealed that the children functioned fairly well socially despite their disabilities and potential for psychological difficulties. Parents suffered from stress caused by problems over acceptance of the child's appearance, the child's behavioural problems, and parental low self-esteem. Ten mothers and eight fathers scored in the deviant range for parental stress, suggesting a need for psychological counselling.

Acrocephalosyndactylia↗
PubMedDate not supplied

Electronmicroscopic observation of the basement membrane zone in focal dermal hypoplasia.

A 3-month-old boy had reticulated achromic and atrophic skin lesions on the right buttock and thigh, as well as partial syndactyly of the third and fourth toes of the right foot. With hematoxylin and eosin stain, an epidermal defect, abnormally located fat cell lobules, and absence of the upper and midportions of the dermis were observed, conforming to a typical histopathologic picture of focal dermal hypoplasia. Electron microscopic examination of the atrophic site showed loose collagen bundles, collagen fibers with loss of regular bands, abnormal fibroblasts, and disruption of the basement membrane zone. These defects in the basement membrane zone strongly suggest that abnormal formation of type IV collagen is associated with focal dermal hypoplasia, and that this abnormal formation of collagen is correlated with the clinical sign of skin atrophy.

Atrophy↗
PubMed1994

Peroneal muscular atrophy with Poland syndrome.

A 22-year-old male college student had a syndactyly between the second and third fingers of his left hand, which was congenitally small in size. His left pectoralis muscles were absent. He first walked at the age of 12 months, but soon developed difficulties in walking due to weakness of the legs. Atrophy and weakness of the legs aggravated gradually. He was diagnosed as having peroneal muscular atrophy and Poland syndrome, an association of which has not been reported before. A small number of similar cases of peroneal muscular atrophy with various skeletal abnormalities in the literature suggest that the association is not incidental, but of clinical significance.

Adult↗
PubMed1988

A case of complete trisomy 2p/triploidy mosaicism.

This report describes a newborn male infant with complete trisomy 2p in 80% and triploidy in 20% of cultured cells from peripheral blood. The boy was delivered by Caesarean section after 32 weeks of gestation because of signs of intrauterine asphyxia. The infant, who was utterly small for his gestational age, showed an aberrant motoric pattern and a high forehead, low-set ears, a prominent occiput and scoliosis, an extension defect in the knee joints and flexed, ulnar-deviated wrists. He had flexed thumbs, sandal gap bilaterally and syndactyly between toes III and IV bilaterally. Autopsy revealed multiple internal malformations.

Abnormalities, Multiple↗
PubMed2005

Massive cystic lymphangiomas of a fetus.

We present a fetus with progressive massive subcutaneous lymphangiomas leading to intrauterine death. A 28-year-old woman was referred to our hospital because of a precordial cystic mass of the fetus. An ultrasound revealed lymphangiomas extending from bilateral axillae to the anterior chest wall. At 18 weeks' gestation, amniocentesis was performed and the karyotype of the fetus was found to be normal 46, XY. Thereafter the lesions increased in size gradually and spread over the body. Amniotic fluid decreased, pericardial, and pleural effusion appeared, and cardiomegaly became evident. The fetus died in utero at 25 weeks' gestation. Postmortem examination revealed a male fetus surrounded with multicystic soft masses spreading over the body, and syndactyly (left third and fourth fingers) was present. Histologically, a number of irregularly dilated lymphatics extended through subcutaneous tissues to the skeletal muscles. No communications between the cysts and the thoracic or abdominal cavity existed, and no lymphatic dilations in the viscera were confirmed. As far as we know, such conditions have rarely been reported. Considering that in previous literature, a favorable prognosis of a fetus with an atypically located (lateral cervical or non-cervical) lymphangioma with a normal karyotype has been reported, our case may be included in a distinct pathological entity. When we find a lymphangioma in a fetus, careful follow-up by ultrasound is mandatory.

Adult↗
PubMed2006

Rates for specific birth defects among offspring of Japanese mothers, Hawaii, 1986-2002.

The objective of this investigation was to identify the rates for specific birth defects among the offspring of Japanese mothers in Hawaii and compare them to rates among the offspring of white mothers. Cases were all infants and fetuses with any of 54 specific birth defects born to Japanese and white mothers identified by a population-based birth defects registry in Hawaii. The rates were calculated for both racial groups and comparisons made by calculating the rate ratio and 95% confidence interval. The rates among the offspring of Japanese mothers were substantially higher for four of the birth defects (pulmonary valve atresia and stenosis, anomalous pulmonary venous return, cleft lip with/without cleft palate, small intestinal atresia and stenosis) and substantially lower for five of the birth defects (pyloric stenosis, hypospadias and epispadias, renal agenesis and hypoplasia, obstructive genitourinary defect, syndactyly). After adjusting for maternal age, these significantly elevated or lower rates remained. Moreover, the rate was significantly higher among the offspring of Japanese mothers for anotia/microtia, tetralogy of Fallot, and persistent cloaca and significantly lower for transposition of great arteries. The rates for a number of specific birth defects differed between Japanese and white mothers in Hawaii.

Asian People↗
PubMed2000

Nijmegen breakage syndrome. The International Nijmegen Breakage Syndrome Study Group.

BACKGROUND: Nijmegen breakage syndrome (NBS) is a rare autosomal recessive disorder. NBS-1, the gene defective in NBS, is located on chromosome 8q21 and has recently been cloned. The gene product, nibrin, is a novel protein, which is member of the hMre11/hRad50 protein complex, suggesting that the gene is involved in DNA double strand break repair. AIMS: To study the clinical and laboratory features of NBS as well as the genotype-phenotype relation. METHODS: Fifty five patients with NBS, included in the NBS registry in Nijmegen were evaluated. The majority of the patients were of eastern European ancestry. Most of them had shown a truncating 5 bp deletion 657-661 delACAAA. Four further truncating mutations have been identified in patients with other distinct haplotypes. RESULTS AND CONCLUSIONS: Essential features found in NBS were microcephaly, usually without severe retardation, typical facial appearance, immunodeficiency, chromosomal instability, x ray hypersensitivity, and predisposition to malignancy. In 40% of the patients cancer was noted before the age of 21 years. Important additional features were skin abnormalities, particularly café au lait spots and vitiligo, and congenital malformations, particularly clinodactyly and syndactyly. Congenital malformations, immunodeficiency, radiation hypersensitivity, and cancer predisposition were comprehensible in case of dysfunctioning of DNA repair mechanisms. No specific genotype-phenotype relation could be found. Patients with the same genotype may show different phenotypes and patients with different genotypes may express the same phenotype. Specific mutations did not lead to specific clinical features.

Adult↗
PubMed1991

Congenital malformations in twins in England and Wales.

STUDY OBJECTIVE: The aim was to compare congenital malformation rates in twin births with those in singleton births. DESIGN: The study was an analysis of malformation rates in singleton and twin births using data from the Office of Population Censuses and Survey's Congenital Malformation Notification Scheme. SETTING: This was a national survey of births in England and Wales in 1979-1980 and 1982-1985. PARTICIPANTS: The data comprised 95,510 reported malformations in 3.7 million singleton births, and 1925 reported malformations in 76,000 twin births. MEASUREMENTS AND MAIN RESULTS: Twin malformation ratios were calculated using maternal age specific singleton rates as standard. In comparison with singleton births, twins have significantly higher reported frequencies of indeterminate sex and pseudohermaphroditism; anencephaly; patent ductus arteriosis; exomphalos; hydrocephalus; anomalies of the umbilical vessels; atresia or stenosis of the large intestine or anus; and tracheo-oesophageal fistula, atresia or stenosis. Twins also have significant reported deficits of polydactyly and syndactyly; congenital dislocation of the hip; anomalies of the tongue, branchial cleft and auricular sinus; post-anal dimple; and Down's syndrome. CONCLUSIONS: Several major malformations were significantly more common in twins than in singletons. The excess of indeterminate sex and pseudohermaphroditism has not been described before and may be analogous to freemartinism in cattle. Most of the conditions less common in twins are minor, and the reported deficits may be due to underascertainment of the less serious conditions in twins. Down's syndrome is an exception, and the deficit may well be real.

Congenital Abnormalities↗
PubMed1976

Clinical details, cytogenic studies,and cellular physiology of a 69, XXX fetus, with comments on the biological effect of triploidy in man.

A triploid fetus, 69, XXX, aborted spontaneously at 26 weeks' gestation. It had multiple abnormalities including syndactyly of the hands and feet single palmar creases, hypoplasia of the adrenals and ovaries, hypertrophy of thigh muscles, and abnormalities of the brain. The placenta was large and showed hydatidiform degeneration. The pregnancy had been complicated by acute dyspnoea, pre-eclampsia, and postpartum haemorrhage. Detailed cytogenetic studies, using banding and fluorescence techniques, were performed on fetus and parents. Meiotic studies were made on the fetal ovaries. Muscle cell differentiation and electrophysiological relationships of cultured skin fibriblasts were examined in an attempt to study the way in which the extra haploid set of chromosomes exerts its effect on the phenotype. The antenatal diagnosis of late triploidy is discussed. The finding that 25 per cent of late triploids have spina bifida is further evidence that meningomyelocele has a genetic component and strongly suggests that this results from chromosomal imbalance or a regulatory gene disturbance.

Abnormalities, Multiple↗
PubMed1980

Pitfalls of genetic counselling in Pfeiffer's syndrome.

A family with Pfeiffer's syndrome is presented in which members of two generations showed only partial but relevant syndactyly before a child was born, in the third generation, with the full acrocephalosyndactyly syndrome.

Acrocephalosyndactylia↗
PubMed1982

De novo interstitial deletion in the long arm of chromosome 9: a new chromosome syndrome.

An infant with an interstitial deletion 46,XY, del(9)(pter leads to q22::q32 leads to qter) is described. Clinical features included abnormal craniofacies with hypotelorism, narrow palpebral fissures, sclerocornea, deep vertical groove, and supraorbital ridge hypoplasia. There was unilateral preaxial polydactyly and toe syndactyly. Generalised hirsutism was noted. The infant had surgery for duodenal atresia but died at the age of 3 months. Unilateral renal dysplasia and accessory spleens were found at necropsy.

Abnormalities, Multiple↗
PubMed2005

Breakpoints around the HOXD cluster result in various limb malformations.

BACKGROUND: Characterisation of disease associated balanced chromosome rearrangements is a promising starting point in the search for candidate genes and regulatory elements. METHODS: We have identified and investigated three patients with limb abnormalities and breakpoints involving chromosome 2q31. Patient 1 with severe brachydactyly and syndactyly, mental retardation, hypoplasia of the cerebellum, scoliosis, and ectopic anus, carries a balanced t(2;10)(q31.1;q26.3) translocation. Patient 2, with translocation t(2;10)(q31.1;q23.33), has aplasia of the ulna, shortening of the radius, finger anomalies, and scoliosis. Patient 3 carries a pericentric inversion of chromosome 2, inv(2)(p15q31). Her phenotype is characterised by bilateral aplasia of the fibula and the radius, bilateral hypoplasia of the ulna, unossified carpal bones, and hypoplasia and dislocation of both tibiae. RESULTS: By fluorescence in situ hybridisation, we have mapped the breakpoints to intervals of approximately 170 kb or less. None of the three 2q31 breakpoints, which all mapped close to the HOXD cluster, disrupted any known genes. CONCLUSIONS: Hoxd gene expression in the mouse is regulated by cis-acting DNA elements acting over distances of several hundred kilobases. Moreover, Hoxd genes play an established role in bone development. It is therefore very likely that the three rearrangements disturb normal HOXD gene regulation by position effects.

Adolescent↗
PubMed1984

Triploidy with cyclopia and identical HLA alleles in the parents.

A 22-week pregnancy was terminated after discovery of serious echographic abnormalities. Fetal examination showed cyclopia, sacral meningocele, and syndactyly. The karyotype was 69,XXX. The parents had identical HLA alleles A1, A2, and Bw21. The mechanism of the triploidy was determined by chromosome marker analysis to be digyny. The association of triploidy with holoprosencephaly and the parents' identical immunological status are discussed.

Abnormalities, Multiple↗
PubMed1984

A case of deletion 2q35----qter and a peculiar phenotype.

A girl with a high and microbrachycephalic cranium (but without craniosynostosis), antimongoloid palpebral fissures, external strabismus, microsomy, a peculiarly shaped nose, soft tissue syndactyly in the right hand and both feet, and psychomotor retardation was found to have a deletion of chromosome 2 (q35----qter) and a Robertsonian translocation 13;14 inherited from her healthy father. The girl's phenotype is compared with the only other case reported involving a similar deletion.

Abnormalities, Multiple↗
PubMed1987

Partial trisomy 6q: case report with necropsy findings.

A male infant with partial trisomy 6q is described. This patient shares features with 12 previously reported cases including hypertelorism, cleft soft palate, bow shaped mouth, micrognathia, short, laterally webbed neck, clubbing of hands and feet, syndactyly, and growth retardation. In addition, visceral anomalies less frequently reported are described. These observations may extend the phenotypic characterisation of the trisomy 6q syndrome.

Abnormalities, Multiple↗
PubMed1987

The clinical spectrum of the Fraser syndrome: report of three new cases and review.

Three new cases of the Fraser syndrome are presented and 68 published cases are reviewed. A quantitative estimate of the frequency of clinical manifestations is given. Craniofacial abnormalities were reported in all patients, cryptophthalmos in 93%, and syndactyly in 54%. Abnormalities of the ears, nose, genitalia, and urinary system were reported in 44%, 37%, 49%, and 37% of cases respectively. This variability should be taken into account when attempting prenatal diagnosis; a combination of ultrasound and fetoscopy should provide the best approach. Of the reported cases 26% were stillborn and 19% died in the first year of life. Renal and pulmonary malformations were associated with early death.

Abnormalities, Multiple↗