Multiple skeletal familial abnormalities associated with balanced reciprocal translocation 2;8(q32;p13).

A father and three of his offspring had skeletal abnormalities consisting of a short forearm, cubitus valgus, fusion of first and second cervical vertebrae, and cleft of L5 and S1. All four had a reciprocal, apparently balanced, translocation 2;8(q32;p13). Normal sibs had normal chromosomes.

Study of a form of pulverulent cataract in a large kindred.

A large kindred (64 members in four generations), affected by a form of apparently congenital pulverulent cataract, was studied for linkage of its gene locus with that of the Fy blood group. No indication of linkage was found. The involvement of the cortex distinguishes this form from the zonular pulverulent cataract (total nuclear) of Nettleship and Ogilvie, the locus of which is probably linked with Fy.

[Polyneuropathy caused by parathion: clinical, electrophysiologic and histologic studies of a case].

A case of 38 year old man who worked with organochlorinated and Parathion during 5 years is reported. His follow-up was up to 2 years. The onset of the disease was characterized by cholinergic signs, headache, loss of weight, trembling, miokimias, fasciculations, ataxia, myotonic phenomena (in hands only) and motor sensitive peripheral polyneuropathy (affecting the lower limbs symmetrically).

[Severe mental retardation and slight dysmorphism in a child with a bisatellite extrachromosome: inversion duplication (15)?].

A de novo tetrasomy 15 has been reported, in a 6 years old child. The patient had severe mental retardation an minimal physical stigmata, consisting in slight skeletal and facial dismorphism. Cytogenetic analysis showed that extrachromosome, G-like long, was bisatellited and dicentric and was interpreted either as an inversion duplication 15 or as 15; G or D translocation.

[Myotubular myopathy: clinical, electrophysiological and histological study of a case].

A cases of myotubular myopathy in a 10 years old girl is reported. Clinically, palpebral ptosis, ocular movements limitation, facial diplegia, positivity of Gower's test, muscular hypotrophy distal, foot drop and deep absent reflexes were found. These signals were described by most of authors, besides symptoms referred, like partial urinary incontinency and frequent vomits.

[Aarskog's syndrome (facial-digital-genital syndrome). Study of a family (author's transl)].

A case of Aarskog syndrome in a 6-years old boy is reported. The patient showed clinical pictures typical of the syndrome: characteristic dysmorphic facies, palpebral ptosis, brachyfalangism, abnormality of the scrotum. Minimal stigmata and clinodactyly of 5th finger were present in a sister.

[XXXXY syndrome: clinical-radiological findings in one patient (author's transl)].

A case of XXXXY syndrome in a 15 year old male is reported. Clinical findings (mental retardation, muscular hypotonia, hypogonadism, characteristic facies), chromosome analyses as well as fingerprint ridge counts were typical of the syndrome. Several radiological abnormalities were found.

A and B postaxial polydactyly in two members of the same family.

Two cases of previously unreported simultaneous presence of A and B postaxial polydactyly in two brothers out of 12 affected members of a kindred are reported. The findings are consistent with the hypothesis that in this family A and b types of postaxial polydactyly are caused by a single gene rather than by two different genes.