Benign familial macrocephaly in a mother-son pair.

Macrocephaly can be found isolated or associated with other anomalies as a part of specific syndrome. Benign Familial Macrocephaly (BFM) is a primary macrocephaly and autosomal dominant and multifactorial inheritances had been proposed. Cole and Hughes (5), described clinically seven patients.

[True hermaphroditism and sequences. Diagnostic implications regarding two cases].

True hermaphroditism is a disorder of sexual differentiation characterized by the presence of ovarian and testicular tissue in a person and it determines an increased risk for developing gonad cancer. Diagnostic and medical-surgical procedures with opportunity and successful in true hermaphroditism, facilitate the prevention of gonadoblastoma, besides contributing to solving social problem for assignation of sex. In this paper we present two cases with true hermaphroditism that had cytogenetic analysis and search for sequences of chromosome Y.

The fifth female patient with Myhre syndrome: further delineation.

We report the fifth female patient with Myhre syndrome (MS) and review the literature. She is a 13-year-old Mexican girl whose phenotype fulfills all the clinical and radiological criteria reported in MS such as typical facies, short stature, limited joint mobility, and short hands and feet. The physical habitus of MS is described and a square body shape is clearly distinguished in all cases.