RESUMO
We describe 5 Spanish children with Kabuki make-up syndrome (KMS)-3 females and 2 males-identified in Badajoz, Spain, between 1988 and 1990. All had the characteristic clinical and radiological manifestations of the syndrome. Psychomotor/mental retardation, postnatal growth deficiency, distinctive facial appearance, sagittal vertebral clefts, and dermatoglyphic abnormalities were present in all 5. Congenital heart defects were present in 4 patients. In addition, one had myopia, astigmatism, and bilateral paralysis of the VI cranial nerve. Another had apparent fusion of the hamate and capitate. An additional patient, as well as his mother, had an apparently balanced 15/17 translocation [46,XY,t(15;17) (15q;21q)]. The fact that these patients were ascertained in a catchment area of approximately 250,000 inhabitants and in a relatively limited period of time suggests that the prevalence of the KMS may be higher than previously recognized.
Assuntos
Anormalidades Múltiplas/genética , Face/anormalidades , Deformidades Congênitas da Mão/genética , Cardiopatias Congênitas/genética , Deficiência Intelectual/genética , Anormalidades Múltiplas/epidemiologia , Adulto , Área Programática de Saúde , Pré-Escolar , Aberrações Cromossômicas/genética , Transtornos Cromossômicos , Cromossomos Humanos Par 15/ultraestrutura , Cromossomos Humanos Par 17/ultraestrutura , Dermatoglifia , Feminino , Humanos , Recém-Nascido , Masculino , Pessoa de Meia-Idade , Linhagem , Prevalência , Espanha/epidemiologia , Síndrome , Translocação GenéticaRESUMO
We studied 34 Spanish children with hypomelanosis of Ito. This disease has an incidence of 1 per 1000 new patients consulting a paediatric neurological service, or 1 per 8000-10,000 unselected patients in a children's hospital. About 94% of our patients show noncutaneous abnormalities. Mental retardation (IQ below 70) was present in 64.7%; another 14.7% had an IQ between 70 and 90, usually associated with poor school performance. Four children exhibited autistic behaviour. Seizures of various types were present in 53% of cases. Other skin alterations in addition to the typical hypomelanosis were observed in 38% of our cases: café-au-lait spots, angiomatous nevi, nevus marmorata, nevus of Ota, Mongolian blue spot, heterochromia of the iris or hair, and other nonspecific pigmentations. Other associated disorders occur inconsistently and include macrocephaly, microcephaly, hémihypertrophy, kyphoscoliosis, coarse facial features, genital anomalies, inguinal hernia, congenital heart disease, hypertelorism, and abnormalities of the teeth, feet and eyes. Autosomal dominant inheritance is demonstrated in some but not all cases.
