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PubMed1983

[Prepenile scrotum: report of a case].

A case of prepenile scrotum associated with hypospadias and syndactyly is reported. The patient was a full-termed first baby of the 25-year-old mother who had no history of congenital malformation. The clinical laboratory study including chromosomal check and I.V.P. revealed no abnormalities. Two-step operative repair was performed scrotoplasty at 2 years old and urethroplasty at 4 years old. As far as we have reviewed, 18 reports of this malformation have been published in Japan.

Child, Preschool↗
PubMed1995

Transverse vaginal septum. A case report.

A case occurred of imperforate, complete transverse vaginal septum in the lower third of the vagina. The patient presented at 16 years of age with primary amenorrhea and was found to have hematocolpos. The clinical impression was an imperforate hymen because of the very low position of the septum in the vagina. After excision the diagnosis of transverse vaginal septum was made histologically because of the presence of müllerian duct (mesodermal origin) tissue in the septum. The patient also had syndactyly of the second and third toes on her right foot. The association of these two congenital abnormalities has not been reported previously.

Adolescent↗
PubMed1994

[Hair dysplasia in oculo-dento-digital syndrome. Apropos of a mother-daughter case].

Oculo-dento-digital syndrome (SODD) as defined by Meyer-Schwickerath in 1957 is a rare entity (84 cases) which belongs to ectodermal dysplasias. It consists of: the characteristic features (long face, pinched nose); syndactyly; ocular, dental and bone abnormalities. This entity is usually transmitted on the autosomal dominant mode. We report two cases (a mother and daughter) with polymalformations which we classed as SODD. Furthermore, agenesis of lacrimal duct and genitourinary abnormalities were noted. The mother had a very particular complex hair shaft dysplasia (incomplete pili torti, "tiger tail" aspect, fractures) with alopecia since she was fifteen years old. The daughter's hair was normal at birth. In SODD, fine and sparse hair is often observed (44 p. 100). Only one patient had hair shaft investigation under polarized light: pili annulati and monilethrix were described but not found in our cases. These two reports incite to the systematic hair shaft study in SODD as other ectodermal dysplasia syndromes.

Abnormalities, Multiple↗
PubMed1994

[Oculodentodigital dysplasia: report of 2 familial cases].

We describe a father and his child with bilateral syndactyly of fingers IV and V and with pinched nose, hypoplastic alae nasi and thin anteverted nares. The patients also showed a small nodule on the tongue tip. Both had no ocular or dental anomalies. The clinical features of our patients resemble those of the patients described by Brueton et al. The hypothesis that the oculodentodigital dysplasia may belong to a contiguous gene spectrum could be confirmed.

Abnormalities, Multiple↗
PubMedDate not supplied

Congenital constriction band syndrome. Pathophysiology and treatment.

The clinical manifestations of 88 children with congenital constriction band syndrome involvement of the hand were reviewed. Seventy-five of these children had evidence of digital or limb amputations, with 235 upper limb amputations and 138 lower limb amputations. In the hand, digital amputations were most common in the index, middle, and ring fingers, whereas in the foot, amputations of the hallux were most often noted. Band indentation was often present at multiple levels. Proximal bands may be associated with neural compression. Syndactyly was invariably associated with a proximal interdigital sinus or cleft and was frequently associated with distal amputation. Examination of a 27-week gestation stillborn specimen having manifestations of congenital constriction band syndrome demonstrated the intrauterine biologic response to band constriction. The variable clinical manifestations of congenital constriction band syndrome can best be explained as the response of the growing, embryologically defined limb to intrauterine deformation or band-induced compression and ischemia.

Abnormalities, Multiple↗
PubMed1993

[Forum on tissue expansion. Expansion of the upper limb].

The authors report their experience of skin expansion of the upper limb based on a series of 42 operated patients: shoulder (8 cases), arm (19 cases), forearm (5 cases) and hand (8 cases). The operative protocol must be rigorous in terms of the choice of prosthesis (shape and size) and the type of valve (internal or external) and in terms of the technique of insertion of the expansion prosthesis (short incision in healthy skin) and harvesting of the expanded flap (sliding-draping flap rather than rotation flap). The indications are varied: unsightly scars and sequelae of burns, congenital naevi, syndactyly, resurfacing and preparation for a secondary surgical procedure (implant of a prosthesis, neurolysis, tenolysis). There were few complications with only 2 major complications resulting in failure of this technique.

Adolescent↗
PubMed1996

Generalized microdontia and associated anomalies: a clinical, genetic, radiologic and dermatoglyphic study.

The clinical, genetic, radiological and dermatoglyphic findings of a case showing generalized microdontia associated with an extra maxillary central incisor, hypoplastic maxilla, prognathic mandible, wide-set of the ears, hooked nose, astigmatism, camptodactyly, flexion contractures of the distal interphalangeal joints of the fingers, thinning of the fingers towards the distal end of the palm, and complete webbing of the IVth and Vth toes (syndactyly type III) and short stature were presented.

Abnormalities, Multiple↗
PubMed1996

A hereditable combination of congenital anomalies.

A kindred of seven affected individuals in three generations is described with autosomal dominant inheritance of bilateral five-fingered hands, pedal polydactyly with syndactyly and agenesis of the tibia and of the lower end of the radius.

Abnormalities, Multiple↗
PubMed1996

Cenani-Lenz syndrome in father and daughter.

We present a father and daughter with typical clinical and radiological features of Cenani-Lenz syndrome. Cenani-Lenz syndrome has been delineated as a type of complete syndactyly resembling the spoon hand seen in Apert syndrome, with as important additional feature, the fusion of metacarpals and disorganization of the phalanges. Based on the observation of the syndrome in at least two affected siblings born to normal parents and the consanguinity in one family autosomal recessive inheritance was proposed. The findings in the present family could indicate that Cenani-Lenz syndrome may be genetically heterogeneous. Another possible explanation could be that the occurrence in affected siblings born to normal parents could be explained by gonadal mosaicism for an autosomal dominant gene.

Child, Preschool↗
PubMed1997

[Hypoplasia of the tibia, polydactyly, and triphalangeal thumb: 1st family described in Venezuela].

Werner in 1915, described a patient is characterized by a tibial bilateral aplasia or hypoplasia, polydactyly and absent thumbs. Autosomal dominant inheritance is demonstrated, with variable expressivity. The objective of this work is to describe a child with clinic and radiologic signs of Tibial Hypoplasia with Polydactyly. The genealogic study allowed us to suppose that the gene has a variable expressivity, since in the maternal branch, malformations such as syndactyly of hands, proximal implantation of thumbs and tibiae vara, have been found. The clinic, radiologic, and genetic aspects are discussed.

Abnormalities, Multiple↗
PubMed1998

[Epidermolysis bullosa hereditaria dystrophica mutilans Hallopeau-Siemens--a complex problem].

Epidermolysis bullosa hereditaria dystrophica mutilans Hallopeau-Siemens is an autosomal recessive, chronically mutilating disease. Causal therapy is not known. In a five-year-old boy suffering from this disease and having the right hand completely clumped to a fist, syndactyly and contraction release was performed. The wounds healed under the care of the silicone-coated polyamide net dressing Mepitel. Under intensive postoperative physio- and ergotherapeutic care, a major part of his previous hand function could be restored. Complete epithelialization occurred within four weeks. Twelve months after the procedure, the area of the previous lesions was marked by an unexpected mechanical stability. It was very impressive to see the improvement in his psychological well-being and his sense of self-esteem during this period of partial recovery of his hand function.

Abnormalities, Multiple↗
PubMed1998

[Fraser syndrome: frequency in our environment and clinical-epidemiological aspects of a consecutive series of cases].

OBJECTIVE: Four major characteristics (cryptophthalmos, syndactyly, genital anomalies and affected siblings) and eight minor characteristics (alterations of the nose, ears, larynx, oral clefts, umbilical hernia, renal agenesis, skeletal anomalies and mental retardation) have been defined for the diagnosis of Fraser syndrome. The generally accepted criterion for the diagnosis is at least the presence of 2 major and one minor characteristic, or one major and four minor characteristics. The etiology of the syndrome is autosomal recessive and siblings are frequently affected. PATIENTS AND METHODS: We show the characteristics of the 7 cases of Fraser syndrome identified in the consecutive series of 1,405,374 liveborn infants and 9,042 stillborn children surveyed by the Spanish Collaborative Study of Congenital Malformations (ECEMC) between April 1976 and March 1997. RESULTS AND CONCLUSIONS: The minimal estimated frequency of Fraser syndrome is 0.43 per 100,000 liveborn infants and 11.06 per 100,000 stillbirths. As has been shown in other case studies, we have observed a wide clinical expression of this syndrome. At present it is possible to prenatally detect some of the characteristics of Fraser syndrome through ultrasound examination of eyes, digits and kidneys. Four out of the 7 cases we present here were gypsies and the frequency of the syndrome among liveborn gypsy infants is 129.3 times higher than among the non-gypsy population. Therefore, given that the frequency of the gene is higher in the gypsy population than in other ethic groups, it is recommended that a special search among gypsies for the identification of this and other autosomal recessive syndromes be performed.

Abnormalities, Multiple↗
PubMed1998

Zygodactyly as the most striking physical anomaly in an adult male patient with pure partial trisomy 1q.

We report on a dysmorphic and mentally retarded adult male patient with partial trisomy 1q resulting from a "de novo" tandem duplication of the 1q32.3-->q42 region. The dysmorphic features consisted of facial asymmetry, synophrys, right external strabismus, teeth anomalies and bilateral syndactyly of fingers III-IV and toes II-III evoking zygodactyly. Clinical comparison is made between the present observation and previously reported cases with pure duplication including the chromosome 1 segment (q32-->q42).

Abnormalities, Multiple↗
PubMed1992

Focal dermal hypoplasia syndrome in a male patient. Report of a case and histologic and immunohistochemical studies.

BACKGROUND: Focal dermal hypoplasia (FDH) is a rare ectomesodermal dysplasia syndrome characterized by cutaneous, skeletal, dental, ocular, and soft-tissue defects. An X-linked dominance with death of male subjects has been assumed as the mode of inheritance. Only a few cases of FDH have been reported in male subjects. A 68-year-old man had typical skin lesions of FDH. Clinical, histologic, and immunohistochemical features are presented. OBSERVATIONS: The cutaneous abnormalities consisted of atrophic hyperpigmented and hypopigmented macules and erythematous, slightly raised lesions showing a highly characteristic linear distribution. Other abnormalities, including syndactyly, apocrine hidrocystoma of eyelids, and bilateral cholesteatoma were observed. Only one case of FDH in association with an apocrine hidrocystoma has been reported previously. Consistent findings microscopically in the erythematous lesions were areas of scar formation with subepidermal bulla overlying the neodermis. A strongly positive immunohistochemical reaction for vimentin, fibronectin, and collagen type III was observed in the scar tissue. No collagen type IV was detected in the basement membrane zone of the epidermis covering the lesion. CONCLUSION: It has been proposed that fibroblastic abnormalities may lead to an alteration of collagen synthesis in FDH, although confirmation of this hypothesis was unavailable. Our findings suggest that production of collagen type IV may be delayed in FDH resulting from a fibroblastic defect.

Aged↗
PubMed1987

Agenesis of the corpus callosum and limbic malformation in Apert syndrome (type I acrocephalosyndactyly).

Agenesis of the corpus callosum and malformation of limbic structures are described in a patient with Apert syndrome, a disorder characterized by acrocephaly, severe syndactyly, and often, mental retardation. Including the present case, malformation of the corpus callosum and/or limbic structures apparently has been reported in a total of ten patients with the syndrome. Complete or partial agenesis of the corpus callosum was found in six patients, septal defects in three, and arhinencephaly and ammonic hypoplasia in one. Since malformation or limbic structures are, to our knowledge, a consistent feature of agenesis of the corpus callosum, it seems that limbic abnormalities could be important for the pathogenesis of mental retardation not only in Apert syndrome, but also in other acallosal patients.

Acrocephalosyndactylia↗
PubMed1981

Ocular manifestations of the Smith-Lemli-Opitz syndrome.

To our knowledge, this article describes the first ocular histopathologic condition of a Smith-Lemli-Opitz proband, despite almost 60 clinical histories that exist in the literature. The sole retinal abnormality in this 1-month-old infant with congenital bilateral cataracts is the extensive dropout of peripheral ganglion axons with incipient optic nerve demyelination. Unusual amorphous cytoplasmic masses that are continuous with photoreceptor discs are prominent aspects of the peripheral subretinal space. The morphological data imply that the localized mitochondrial disintegration is restricted to the corneal endothelium and retinal pigment epithelium and is an important element in the etiology. All children who fail to thrive with vomiting, are mentally deficient, have anteverted nostrils, broad maxillary alveolar ridges, syndactyly of the second and third toes, and ambiguous genitalia should be carefully screened for incipient corneal endothelial changes, mild cataracts, and peripheral retinal changes.

Abnormalities, Multiple↗
PubMed1996

Diaphragmatic defects, limb deficiencies, and ossification defects of the skull: a distinctive malformation syndrome.

We report on prenatal and postnatal findings in 4 consecutive fetuses with a pattern of severe congenital anomalies who were born to a healthy nonconsanguineous couple. The spectrum of malformations includes diaphragmatic defects, hypoplastic lungs, omphalocele, limb deficiencies, syndactyly of toes, and ossification defects of the skull. This specific spectrum of anomalies is not fully compatible with that of any established syndrome. No prenatal exposure to any possible teratogen was found. Family history is suggestive for autosomal recessive inheritance, even though germ-line mosaicism in one of the parents cannot completely be excluded.

Abnormalities, Multiple↗