RESUMO
The triphalangeal thumb (TPT) is a rare malformation in which the thumb is presented as a long digit of three phalanges. We describe two brothers showing TPT and psychomotor retardation, especially in language. Difficulties in language development were also observed in children with TPT in another study. The coexistence of TPT and psychomotor retardation in those patients and in the two patients described here suggests that TPT and psychomotor retardation could be part of a syndromic association not described previously.
Assuntos
Transtornos do Desenvolvimento da Linguagem/genética , Polidactilia/genética , Transtornos Psicomotores/genética , Polegar/anormalidades , Pré-Escolar , Aberrações Cromossômicas , Genes Dominantes , Humanos , Deficiência Intelectual/diagnóstico , Deficiência Intelectual/genética , Inteligência/genética , Transtornos do Desenvolvimento da Linguagem/diagnóstico , Masculino , Polidactilia/diagnóstico , Transtornos Psicomotores/diagnóstico , SíndromeRESUMO
Myhre syndrome is a rare disorder characterized by low birthweight, short stature, mental retardation, facial dysmorphism (blepharophimosis, midfacial hypoplasia, prognathism), heart anomalies, muscle hypertrophy, decreased joint mobility and deafness. To date 11 male cases and only one female case have been reported. This paper describes the second female case and compares the clinical and radiological findings between female and male patients.
Assuntos
Anormalidades Múltiplas/patologia , Osso e Ossos/anormalidades , Face/anormalidades , Cardiopatias Congênitas/patologia , Doenças Musculares/patologia , Anormalidades Múltiplas/genética , Estatura , Osso e Ossos/diagnóstico por imagem , Pré-Escolar , Feminino , Doenças Genéticas Ligadas ao Cromossomo X , Humanos , RadiografiaRESUMO
Three sibs with congenital glaucoma, skeletal anomalies, and peculiar facial appearance were studied. At birth, enlarged eyes and corneae were present in the proposita and her two brothers due to congenital glaucoma secondary to iridogoniodysgenesis (IGD). The purpose of this article is to describe the second familial case with IGD and skeletal anomalies as the family previously described by García-Cruz et al. in 1990, corroborating this new distinct dysmorphic syndrome with probable autosomal recessive inheritance.