Calcified ovarian fibromas in prepubertal girls.

Ovarian fibromas in prepubertal girls are rare. We describe two girls aged 8 and 11 years with extensively calcified ovarian fibromas. One patient had a single unilateral fibroma with metaplastic bone formation in the calcified area. The other patient had bilateral nodular fibromas suggesting the possibility of naevoid basal-cell carcinoma syndrome although broader manifestations are lacking at present.

Diaper dermatitis. Value of vitamin A topically applied.

The role of vitamin A in preventing diaper dermatitis was evaluated in a double-blind, randomized, prospective study in which 114 newborns were enrolled over an 11-month period. Patients in Group A (58 infants) were treated with a cream that contained 1,000 IU/g of vitamin A, whereas patients in Group B (56 infants) were treated with a cream that had the same composition, but it did not contain vitamin A. Each participant returned once every 15 days for six follow-up visits.

A case of male pseudohermaphroditism with normal androgen receptor binding and 47,XYY karyotype.

A case of male pseudohermaphroditism with 47,XYY karyotype in blood and cutaneous fibroblasts is described. The plasma testosterone response to HCG stimulation was slightly below the normal range on two occasions suggesting a deficit of gonadal function. A study of the receptors for dihydrotestosterone in fibroblasts of genital and nongenital skin showed a normal concentration of receptors in genital skin; 5-alpha-reductase activity in fibroblasts of the genital skin was low, but the plasma relationship testosterone/dihydrotestosterone under HCG stimulation was normal. The diagnostic possibility of a complete testicular feminization syndrome with normal receptors for dihydrotestosterone is commented on.

Poland-Möbius syndrome associated with dextrocardia.

A newborn male with Möbius syndrome, Poland anomaly, and dextrocardia is described. This is the second case reported of Poland-Möbius syndrome associated with dextrocardia. The patient presented with strabismus, facial diplegia, difficulty in swallowing, hypoplasia of the left pectoralis major muscle, partial absence of the upper costal cartilages, absence of the left areola, hypoplasia of the left forearm and hand, and dextrocardia without murmurs.

[Primary hyperlipoproteinemia in childhood (author's transl)]. / Hiperlipoproteinemia primaria tipo V en el niño.

Type V hyperlipoproteinemia is an unusual entity in children. Only 6 cases have been described so far to our knowledge. Authors present a 9 year old male that came for diagnosis of a hepatosplenomegaly. There was no evidence of abdominal pain, xanthomas or pancreatitis. Secondary disorders such as uncontrolled insulinopenic diabetes mellitus, glycogen storage disease, administration of estrogen compounds, nephrotic syndrome or uremia, and dysglobulinemias were excluded. His father presented the same lipoprotein pattern suggesting a dominant mode of inheritance. The administration of heparin showed a good response of serum proteinlipase.

The Coffin-Siris syndrome. A report of four cases and review of the literature.

Four additional cases of the Coffin-Siris syndrome bring the number of reported cases to 16. This disorder is characterized by the absence or hypoplasia of the nails, especially those of the fifth fingers and toes, growth retardation and mental deficiency, microcephaly, coarse facial appearance, sparse scalp hair and lax joints. Feeding difficulties and respiratory problems are common in infancy. Absence or hypoplasia of the distal and middle phalanges, especially those of the fifth finger and toes and retarded bone maturation are the most common radiological features.

[Acceleration of postnatal development, hypertony, enlargement of the middle phalanges and of the distal metaphyses of the femur, peculiar facies: a case of Weaver's syndrome?]. / Acceleration du developpement postnatal, hypertonie elargissement des phalanges medianes et des metaphyses distales du femur, facies particulier: s'agit-il d'un syndrome de Weaver?

A child is described with accelerated bone maturation, large dysplastic ears, and hypertelorism. These are features of both the Marshall-Smith and Weaver's syndrome. The child was mentally retarded and had enlargement of the middle phalanges, features only seen in Marshall-Smith syndrome. However, there was also enlargement of the metaphyses, a characteristic of Weaver's syndrome. The possiblity that these syndromes may represent different manifestations of the same entity is discussed.