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 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.
Coad
J E
JE
Department of Laboratory Medicine and Pathology, University of Minnesota Medical School, Minneapolis 55455, USA.
Angel
C
C
Pierpont
M E
ME
Gorlin
R J
RJ
Anderson
M L
ML
D000015:Abnormalities, Multiple / Q000145:classification / Q000473:pathology*; D000311:Adrenal Glands / Q000002:abnormalities; D001921:Brain / Q000002:abnormalities / Q000473:pathology; D002648:Child; D002675:Child, Preschool; D017809:Fatal Outcome; D005260:Female; D006801:Humans; D007021:Hypospadias; D007231:Infant, Newborn; D007668:Kidney / Q000002:abnormalities; D008297:Male; D008831:Microcephaly; D013116:Spinal Cord / Q000002:abnormalities; D013577:Syndrome; D014469:Umbilical Arteries / Q000473:pathology