Microcephaly with agenesis of corticospinal tracts and arthrogryposis, hypospadias, single umbilical artery, hypertelorism, and renal and adrenal hypoplasia--previously undescribed syndrome.
Am J Med Genet
; 71(4): 458-62, 1997 Sep 05.
Article
em En
| MEDLINE
| ID: mdl-9286455
ABSTRACT
We describe a small, term, male infant with corticospinal tract aplasia secondary to motor cortex dysplasia from a neuronal proliferation and/or migrational defect. The infant also had microdolichocephaly, sloping forehead, hypertelorism, flat nose, apparently low-set ears, micrognathia, arthrogryposis without muscle wasting, cortical thumbs, rocker-bottom feet, scoliosis, single umbilical artery, and hypospadias with chordee. Oligohydramnios was present prenatally. Neurologic examination showed a comatose state, seizures, minimal spontaneous movement, minimal response to pain, and absent primitive reflexes. At autopsy, hypoplasia of kidneys and adrenal glands was found. There was no aqueductal stenosis or pulmonary hypoplasia. Chromosomes were apparently normal. These manifestations do not correspond to those of any recognized syndrome; therefore, this patient may represent a previously undefined syndrome.
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Base de dados:
MEDLINE
Assunto principal:
Anormalidades Múltiplas
Limite:
Child
/
Child, preschool
/
Female
/
Humans
/
Male
/
Newborn
Idioma:
En
Revista:
Am J Med Genet
Ano de publicação:
1997
Tipo de documento:
Article
País de afiliação:
Estados Unidos