Recurrent massive subperiosteal hematoma in a patient with neurofibromatosis.

The authors report the case of a 13-year-old neurofibromatosis (NF-I) patient who suffered a blunt trauma in 1993. The diagnosis of subperiosteal hematoma was made. The pathogenesis of subperiosteal hematoma is discussed.

Congenital longitudinal deficiency of the tibia--report of two cases, both siblings of same parentage.

Two cases of type IV congenital longitudinal deficiency of the tibia are reported. The patients aged three months and eleven years are siblings of the same parentage, female and male respectively. Autosomal dominance inheritance is the probable mode of inheritance.

A further case of vertical transmission of proximal femoral focal deficiency?

We report on a newborn boy with congenital asymmetrically hypoplastic fibulae, lateral oligodactyly, and mild left ectrodactyly. The patient's grandfather had a short femoral shaft with a slightly smaller collodiaphyseal angle on the left as compared to the right side, probably a proximal focal femoral deficiency (PFFD). The upper limbs were not affected in either patient. PFFD in the grandfather and hypoplastic fibulae with lateral ray defects in the grandson raise the possibility of genetic transmission, specifically autosomal-dominant inheritance with variable penetrance and expressivity. This case gives further support to the fibular developmental field concept postulated by Lewin und Opitz [1986: Am J Med Genet (Suppl) 2:215-238].

Sacral agenesis occurring in siblings: case report.

We report a rare incidence of sacral agenesis occurring in siblings. One of our patients had a low-lying conus, and untethering of the cord in the area of the filum terminale led to improvement in urinary symptoms. The need for aggressive investigation of patients with sacral agenesis and static neurological deficits is discussed.

Cell line segregation in a 45,X/46,XY mosaic child with asymmetric leg growth.

Clinical evaluation of a 13 1/2-year-old male revealed a 4.4-cm leg length discrepancy and a small penis with a normal endocrine evaluation. Cytogenetic analysis of peripheral blood lymphocytes and skin fibroblasts derived from the back showed 45,X/46,XY mosaicism with similar percentages of 45,X cells, 36% and 30% respectively. However, two separate skin fibroblast cultures derived from the thigh and calf of the short (right) leg showed significant lack of Y-bearing cells with 100% and 80% 45,X, respectively. In contrast, skin biopsies of the thigh and calf of the normal (left) leg both showed 100% 46,XY. Similar evidence for differences in the percentages of Y-bearing cells in the left versus right leg fibroblast cultures was obtained using densitometric scanning of dot blots following DNA hybridization with a Y-specific probe at the DYZ4 locus. Asymmetric limb growth in cases of X/XY lymphocyte mosaicism warrants further cytogenetic investigation to substantiate possible genotype-phenotype correlations which may help uncover the fundamental growth deficiency in Turner syndrome.

Leg duplication and kidney agenesis: case report and pathogenic considerations.

A case is given of a male born with a total duplication of the left leg. In addition, ipsilateral kidney agenesis was found. Three possible mechanisms of leg duplication are given. The association with renal agenesis is discussed in terms of a polytopic developmental field defect.

Sibs with tetrasomy 18p born to a mother with trisomy 18p.

We report a family with an 18p trisomic mother and two 18p tetrasomic daughters. The mother is phenotypically normal and healthy, but with an unusual type of trisomy 18p: 47,XX,del(18)(pter----p11.21),+i(18p) de novo. The older sister has microcephaly, mental retardation, an asymmetrical and peculiar face with low set ears, pinched up nose, high arched palate, small mouth, micrognathia, tapering fingers, asymmetrical length of legs, and an asthenic body. The younger sister was stillborn with extensive defects of the skull, congenital hydrocephalus, severe facial anomalies, and lumbosacral meningocele. Both daughters have inherited one normal chromosome 18 and an isochromosome 18p from their mother, and one normal chromosome 18 from their father. Although one quite similar family has been reported, to the best of our knowledge there have been no reports of families in which two daughters with tetrasomy 18p syndrome have been born to a mother with trisomy 18p with isochromosomes.

[CHILD syndrome--a case report for understanding this rare genetic dermatosis]. / CHILD-Syndrom--kasuistischer Beitrag zur Kenntnis dieser seltenen Genodermatose.

CHILD syndrome in a 4 6/12 years old girl with manifestation of the typical unilateral ichthyosiform erythroderma and hypoplasia of the left arm and leg after birth is reported. The symptoms are listed in a table for comparison to other publications. The moderate shortening of the mother's left arm has significance to the unclear mode of heredity. Local therapy with vitamin A acid brought a satisfactory result. Finally, a short reference is given to a new case from another kindred.

[The small patella syndrome. A combination of knee and pelvic dysplasia]. / "The Small Patella Syndrome". Eine Kombination von Knie- und Beckendysplasie.

In 1979, using the name "small patella syndrome", Scott and Taor described a family in which hypoplasia or aplasia of the patella was inherited by autosomal dominant transmission. Hip dysplasias and pelvic changes accompanying the patellar changes have also been observed in some cases. On the basis of three personal observations this dysplasia syndrome is described in more detail and compared with the other syndromes involving the kneecap and pelvis. One case was discovered as a result of a femoropatellar pain syndrome, a second because of slight functional disturbances. The third case was a chance finding. Although, in two of the cases, several affections of the locomotor apparatus were found in the patients' families, it could not be confirmed that the syndrome was hereditary.

[Familial distal progressive spinal amyotrophy with asymmetry of the lower limbs]. / Amyotrophie spinale progressive distale et asymétrique des membres inférieurs à caractère familial.

Two cases of spinal muscular atrophy, localized on the lower limbs and strictly unilateral, in two half brothers, are reported. Such a distribution of clinical changes and such a hereditary transmission appear to be unusual in hereditary motor-neuronopathies. A recessive heterotopic transmission may be suspected. To our knowledge, it has been reported in Kennedy's disease only.

Family study of congenital limb reduction abnormalities in Hungary 1975-1977.

A family study of 274 index patients with limb reduction malformations born in Hungary from 1975 to 1977 is reported. The majority of 789 first-degree relatives were personally examined. Information was collected on 1094 uncles and aunts and on 1095 cousins, and those affected by limb malformations were examined. Among 789 first-degree relatives six were affected by a similar malformation (radial, ulnar and central ray defects) and 1 by a malformation of a different type; no secondary cases of the same type were found among the relatives of patients with terminal transverse and amniogenic malformations, and with limb malformations which were part of syndromes or unclassifiable associations with other malformations. While a few rare types of limb defects are due to dominant genes, the aetiology of most cases is obscure. There is no evidence of sex-linked inheritance, of multifactorial causation or of environmental factors shared by relatives. These results are similar to those of an earlier study by Birch-Jensen.