Microcephaly with agenesis of corticospinal tracts and arthrogryposis, hypospadias, single umbilical artery, hypertelorism, and renal and adrenal hypoplasia - Previously undescribed syndrome

James E. Coad, Cathryn Angel, Mary Ella M Pierpont, Robert J. Gorlin, Michael L Anderson

Research output: Contribution to journalArticlepeer-review

4 Scopus citations

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 pre-natally. 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.

Original languageEnglish (US)
Pages (from-to)458-462
Number of pages5
JournalAmerican Journal of Medical Genetics
Volume71
Issue number4
DOIs
StatePublished - Sep 5 1997

Keywords

  • Agenesis of corticospinal tracts
  • Arthrogryposis
  • Cortical dysplasia
  • Microcephaly

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