RESUMO
We describe a patient with the unusual association of cleft palate, bilateral choanal atresia, curly hair, and congenital hypothyroidism. This association has been reported before in two brothers and may represent a new syndrome.
Assuntos
Anormalidades Múltiplas/diagnóstico , Atresia das Cóanas/diagnóstico , Fissura Palatina/diagnóstico por imagem , Cabelo/anormalidades , Hipotireoidismo/diagnóstico , Hipotireoidismo Congênito , Feminino , Cabelo/ultraestrutura , Humanos , Recém-Nascido , Imageamento por Ressonância Magnética , Microscopia Eletrônica de Varredura , Síndrome , Tomografia Computadorizada por Raios XRESUMO
In this report we describe two siblings, a 17-year-old male and his deceased sister, born to consanguineous parents, and presenting an oculocerebral syndrome with hypopigmentation as first delineated by Cross in 1967. In addition to the cutaneous hypopigmentation, both presented deep mental retardation and spastic tetraplegia with athetoid movements. A remarkable finding in this family is that a third sibling, an otherwise normal 23-year-old male, presents the same hypopigmentation with white-grey hair colour as his two severely affected siblings.
Assuntos
Albinismo/genética , Consanguinidade , Oftalmopatias/genética , Adolescente , Adulto , Cegueira/genética , Feminino , Humanos , Deficiência Intelectual/genética , Masculino , Nistagmo Patológico/genética , Quadriplegia/genética , Estrabismo/genética , SíndromeRESUMO
A brother and sister with congenital cerebellar ataxia, anosmia, oligophrenia, hypogonadism and anomalies of amino acid distribution are reported. Ties between the different symptoms are difficult to establish. It seems to be a new syndrome rather than a new disease. Once more these associations emphasize the need for metabolic and biochemical research in heredodegenerative diseases. The evolution of the disease in these cases might make it possible to classify and locate it more accurately.
