RESUMO
INTRODUCTION: Since the first description of ring chromosome 8 [r(8)] in 1973, only a few patients have been reported. In this report we present a child with this anomaly, and we compare his clinical manifestations with previously reported patients. CLINICAL CASE: A 12 year-old boy presented with low birth weight, mental retardation, microcephaly, short stature, hypotonia, and minor facial anomalies: hypotelorism, bilateral epicanthic folds, long philtrum, thin lips, narrow palate, micrognathia and low-set ears. Digital anomalies were bilateral brachyclinodactily of the fifth finger, and cutaneous syndactyly between second and third fingers. The boy had a pleasant personality but exhibit attachment for people and things with unrestricted affect. Cytogenetic analysis on peripheral white blood cells showed a r(8) chromosome. Parental karyotypes were both normal. CONCLUSIONS: The major features in the boy studied by us were found also in the other cases reported with an r(8) chromosome, but all they were non-specific features, and do not support the existence of a readily recognizable r(8) chromosome syndrome . Follow-up data with special emphasis on the behavioral characteristics are needed for defining an specific behavioral phenotype.
Assuntos
Cromossomos Humanos Par 8 , Face/anormalidades , Deficiência Intelectual/genética , Microcefalia/genética , Cromossomos em Anel , Anormalidades Múltiplas/genética , Adulto , Criança , Comportamento Infantil , Feminino , Deformidades Congênitas da Mão , Humanos , Cariotipagem , Masculino , FenótipoRESUMO
Ichthyosis follicularis, congenital alopecia, and photophobia are typical features of a rare X-linked recessive disorder termed ichthyosis follicularis with atrichia and photophobia syndrome. A 3-year-old male with these findings and severe growth failure, mental retardation, generalized seizures, vascularizing keratitis, nail anomalies, inguinal hernia, and a normal chromosome constitution is presented. Two maternal male relatives were affected by the same condition. Magnetic resonance imaging revealed corpus callosum hypoplasia not described at present. Syndromes with alopecia, seizures, and mental retardation are analyzed on the basis of genetic and clinical results.
Assuntos
Alopecia/congênito , Alopecia/complicações , Ictiose Ligada ao Cromossomo X/complicações , Deficiência Intelectual/complicações , Fotofobia/complicações , Agenesia do Corpo Caloso , Encéfalo/fisiopatologia , Pré-Escolar , Eletroencefalografia , Epilepsia/complicações , Epilepsia/fisiopatologia , Humanos , Ictiose Ligada ao Cromossomo X/diagnóstico , Imageamento por Ressonância Magnética , Masculino , Lobo Occipital/fisiopatologia , Síndrome , Lobo Temporal/fisiopatologiaRESUMO
A boy with congenital atrichia, ichthyosis follicular, keratitis, cutaneous infections and a huge inguinal hernia, but without deafness is reported. We believe it represents a new case of a rare X-linked recessive syndrome known as ichthyosis follicularis, alopecia, photophobia syndrome (IFAP). The differential diagnosis from keratitis ichthyosis deafness is discussed. The cutaneous infections seen in our case suggest the possibility of considering a genetic link between these syndromes.
Assuntos
Candidíase Cutânea/patologia , Doença de Darier/patologia , Cabelo/anormalidades , Hérnia Inguinal/patologia , Ictiose/patologia , Deficiência Intelectual/patologia , Ceratite/patologia , Convulsões/patologia , Alopecia/patologia , Pré-Escolar , Doença Crônica , Surdez/patologia , Diagnóstico Diferencial , Humanos , Masculino , Linhagem , Fotofobia/patologia , SíndromeRESUMO
Se presentan 12 casos de llanto asimétrico en 8 varones y 4 niñas, con edades comprendidas entre 1 mes y 6 años, 11 del lado izquierdo y 1 del lado derecho. Entre los datos personales no figura ningún punto de interés, mientras que en la apreciación de los antecedentes familiares encontramos 2 hermanos con la misma anomalía. El estudio clínico cardiovascular, radiológico y electrocardiográfico efectuado en los 12 niños, no comprobó malformación cardíaca en ninguno de ellos. El estudio electromiográfico ha permitido objetivar alteraciones que apoyan la hipótesis de la hipoplasia muscular de los depresores del labio inferior, así como también elementos a favor del compromiso de las ramas terminales que inervan estos músculos (AU)
Assuntos
Humanos , Masculino , Feminino , Lábio/anormalidades , EletromiografiaRESUMO
Se presentan 12 casos de llanto asimétrico en 8 varones y 4 niñas, con edades comprendidas entre 1 mes y 6 años, 11 del lado izquierdo y 1 del lado derecho. Entre los datos personales no figura ningún punto de interés, mientras que en la apreciación de los antecedentes familiares encontramos 2 hermanos con la misma anomalía. El estudio clínico cardiovascular, radiológico y electrocardiográfico efectuado en los 12 niños, no comprobó malformación cardíaca en ninguno de ellos. El estudio electromiográfico ha permitido objetivar alteraciones que apoyan la hipótesis de la hipoplasia muscular de los depresores del labio inferior, así como también elementos a favor del compromiso de las ramas terminales que inervan estos músculos
