RESUMO
The Meier-Gorlin syndrome or ear, patella, short stature syndrome (MIM 224690) is a rare autosomal recessive disorder, characterized by the association of bilateral microtia, aplasia/hypoplasia of the patellae, and severe pre- and postnatal growth retardation. Twenty-one cases have been reported in literature thus far. Here we report on eight patients from seven families and compare them with previously described cases. One of the present cases had previously undescribed genital anomalies. There is a difference in facial characteristics between patients reported in early infancy and those described at older age; follow-up of patients is needed to substantiate this changing facial phenotype. We recommend radiographic survey of the patellae in patients at older age to investigate the weight of absent or hypoplastic patellae in the diagnosis of the syndrome.
Assuntos
Anormalidades Múltiplas/genética , Orelha/anormalidades , Transtornos do Crescimento/patologia , Patela/anormalidades , Anormalidades Múltiplas/patologia , Pré-Escolar , Saúde da Família , Feminino , Humanos , Lactente , Masculino , SíndromeRESUMO
We report on four unrelated cases of an Opitz trigonocephaly (C)-like syndrome with a highly characteristic combination of facial anomalies including prominent metopic suture, exophthalmos, hypertelorism, cleft lip and palate, flexion deformities of the upper limbs and multiple other anomalies. We also review two very similar published cases formerly considered to have the C syndrome. Although there is overlap, a clinical distinction from the Opitz trigonocephaly and other syndromes seems possible, and thus a specific causal entity may be postulated.
Assuntos
Anormalidades Múltiplas/classificação , Encéfalo/anormalidades , Anormalidades Craniofaciais/classificação , Feminino , Humanos , Lactente , Masculino , SíndromeAssuntos
Colesterol , Gangliosídeos , Lipossomos , Surfactantes Pulmonares , Tireotropina , Cinética , Ligação ProteicaRESUMO
A specific interaction was demonstrated between GT1 gangliosides incorporated in bilayer membranes and luteinizing hormone. This interaction would allow the penetration of a hormone subunit in the membrane. The results are discussed in terms of adenylate cyclase activation.