RESUMO
We report a case of cutis verticis gyrata-mental deficiency syndrome associated with generalized epidermal nevus. The clinical features of the patient included severe mental retardation, drug resistant epilepsy, short stature, scaphocephaly and dysmorphic face with scanty scalp hair, hypertelorism, long palpebral fissure, low nasal bridge, hyperplasia of ala nasi, low-set ears with convoluted fold, and partial obstruction of the nasolacrimal ducts. Multiple convoluted folds and furrows on the scalp were extended to eyebrows and nose. Both lateral ventricle with periventricular leukomalacia were dilated markedly and the corpus callosum was hypoplastic on brain MRI. The nature of the yellowish brown colored elevated skin nevi on the whole body was consistent with systemic epidermal nevus by pathological study.
Assuntos
Humanos , Recém-Nascido , Encéfalo , Corpo Caloso , Craniossinostoses , Orelha , Epilepsia , Sobrancelhas , Cabelo , Hiperplasia , Hipertelorismo , Deficiência Intelectual , Ventrículos Laterais , Leucomalácia Periventricular , Imageamento por Ressonância Magnética , Ducto Nasolacrimal , Nevo , Nariz , Couro Cabeludo , PeleRESUMO
Deletions of 6q chromosome are rare. Although 60 cases of deletions of the long arm of chromosome 6 have been reported in the literature, there was no reported case in Korea. We report a 9 year old boy with a deletion 46,XY,del(6)(q16), who presented growth and developmental delay, brachycephaly, minor facial dysmorphism, low-set ear, short 5th finger with clinodactyly, abnormal palmar creases, cryptorchidism and small feet. Brain MRI showed arachnoid cyst on the temporal lobe with mass effect and dilatation of the lateral ventricle which are consistent with brain atropy. Clinical data were analyzed in comparison with patients reported in the literature.
Assuntos
Criança , Humanos , Masculino , Aracnoide-Máter , Braço , Encéfalo , Cromossomos Humanos Par 6 , Craniossinostoses , Criptorquidismo , Dilatação , Orelha , Dedos , Pé , Crescimento e Desenvolvimento , Coreia (Geográfico) , Ventrículos Laterais , Imageamento por Ressonância Magnética , Lobo TemporalRESUMO
No abstract available.
Assuntos
Seguimentos , Imageamento por Ressonância Magnética , RadiculopatiaRESUMO
No abstract available.
