RESUMO
Pentasomy X cases are very few. In this study we describe three clinical cases (two newborn children and a girl in puberal age) of females showing a 49, XXXXX cariotype. The salient phenotypic characteristics of these cases (heart defects, growth deficiency, craniofacial and hand abnormalities) are compared to the clinico-pathological data described in literature.
Assuntos
Anormalidades Múltiplas/genética , Cromossomos Humanos X , Transtornos dos Cromossomos Sexuais/genética , Anormalidades Múltiplas/patologia , Adolescente , Aneuploidia , Anormalidades Craniofaciais/genética , Nanismo/genética , Feminino , Deformidades Congênitas da Mão/genética , Cardiopatias Congênitas/genética , Humanos , Recém-Nascido , Cariotipagem , Masculino , Fenótipo , Transtornos dos Cromossomos Sexuais/patologiaRESUMO
Kyphomelic dysplasia (KD) is a rare autosomal recessive entity characterized by disproportionate dwarfism with shortening and bowing of the limbs, narrow chest, 11 ribs and metaphyseal flaring. Mental development is generally normal. We report the in utero ultrasound appearances and post-mortem radiographic findings of a 22-week-old male fetus suggestive of KD. A review of 19 previously reported patients with KD is also presented.
Assuntos
Doenças do Desenvolvimento Ósseo/diagnóstico por imagem , Nanismo/diagnóstico por imagem , Ultrassonografia Pré-Natal , Adulto , Amniocentese , Feminino , Fêmur/anormalidades , Idade Gestacional , Humanos , Masculino , GravidezRESUMO
Diagnostic pathway and 5-years follow-up of a case of childhood-form hypophosphatasia (a severe form of vitamin D resistant rickets) are described. Family study led to the identification of five affected relatives (father, sister, paternal uncle, first-cousins), two with severe clinical evidence. Inheritance pattern in this family is compatible with autosomal dominant transmission.