MICROCEPHALY WITH AGENESIS OF CORTICOSPINAL TRACTS AND ARTHROGRYPOSIS, HYPOSPADIAS, SINGLE UMBILICAL ARTERY, HYPERTELORISM, AND RENAL AND ADRENAL HYPOPLASIA - PREVIOUSLY UNDESCRIBED SYNDROME

We describe a small, term, male infant with corticospinal tract aplasi a secondary to motor cortex dysplasia from a neuronal proliferation an d/or migrational defect. The infant also had microdolichocephaly, slop ing forehead, hypertelorism, flat nose, apparently low-set ears, micro gnathia, arthrogryposis without muscle wasting, cortical thumbs, rocke r-bottom feet, scoliosis, single umbilical artery, and hypospadias wit h chordee. Oligohydramnios was present prenatally. Neurologic examinat ion showed a comatose state, seizures, minimal spontaneous movement, m inimal response to pain, and absent primitive reflexes. At autopsy, hy poplasia of kidneys and adrenal glands was found. There was no aqueduc tal stenosis or pulmonary hypoplasia. Chromosomes were apparently norm al. These manifestations do not correspond to those of any recognized syndrome; therefore, this patient may represent a previously undefined syndrome. (C) 1997 Wiley-Liss, Inc.