TY - JOUR
T1 - Microcephaly with agenesis of corticospinal tracts and arthrogryposis, hypospadias, single umbilical artery, hypertelorism, and renal and adrenal hypoplasia - Previously undescribed syndrome
AU - Coad, James E.
AU - Angel, Cathryn
AU - Pierpont, Mary Ella M
AU - Gorlin, Robert J.
AU - Anderson, Michael L
PY - 1997/9/5
Y1 - 1997/9/5
N2 - 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.
AB - 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.
KW - Agenesis of corticospinal tracts
KW - Arthrogryposis
KW - Cortical dysplasia
KW - Microcephaly
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U2 - 10.1002/(SICI)1096-8628(19970905)71:4<458::AID-AJMG16>3.0.CO;2-F
DO - 10.1002/(SICI)1096-8628(19970905)71:4<458::AID-AJMG16>3.0.CO;2-F
M3 - Article
C2 - 9286455
AN - SCOPUS:0030865327
SN - 0148-7299
VL - 71
SP - 458
EP - 462
JO - American Journal of Medical Genetics
JF - American Journal of Medical Genetics
IS - 4
ER -