The Triad of Anotia, Facial Paralysis, and Cardiac Anomaly Not Due To Thalidomide

A familial disorder with duodenal atresia and tetralogy of Fallot

“…An electromyogram and nerve conduction studies showed findings consistent with either a lesion in the right seventh cranial nerve without denervation andlor congenital poor development of facial musculature. This is different from the post-mortem finding in the case described by Matthies [1966]. None of the three patients with this syndrome had DA, which makes this syndrome an unlikely diagnosis in our family.…”

“…Two case reports on three patients have appeared in the literature [Matthies, 1966;Pearl, 19841. In this condition, the ear anomalies ranged from preauricular skin tags to microtidanotia. Two of the three cases had heart defects that were variations of TOF (VSD and pulmonary stenosis).…”

Parental occupation and birth outcome in an agricultural community.

“…Pesticide residues have been found in human fetal tissue (5), and, if administered in sufficiently high doses, all three classes of these insecticides have been shown to cause skeletal anomalies in laboratory animals (2,12,18,19). Although several human case reports assert a causal connection between gestational insecticide exposure and congenital malformations (7,14,15), previous human studies have failed to confirm this assocation conclusively (1, 6,8,10,16 a The APGAR score is based on the assessment of the heart rate, respiratory effort, muscle tone, reflex irritability. and color and ranges from a low of a to a high of 10.…”

Intracranial Lipomas, Hydrocephalus and Other CNS Anomalies in Oculoauriculo-Vertebral Dysplasia (Goldenhar-Gorlin Syndrome)

“…The exclusion of the autopsy cases would also lower the incidence of central nervous system anomalies. The spectrum of neurological manifestations of GoldenharGorlin syndrome is very broad, ranging from involvement of the first [3], second [35,36], third, fourth, sixth [2]; fifth [39]; seventh [1,37]; eighth, ninth and tenth [37] cranial nerves; mental retardation [4,8, 10, 13-16.20, 25, 27, 28, 42, 43, 47, 51]; increased intracranial pressure and hydro cephalus [7 .2 4 ,2 9 ,3 1,50. 52]: occipital and frontal encephalocele [8,10,24,27,28,43,52]; intracranial arachnoid cyst [7]; intracranial lipoma [19]; holoprosencephaly [52]; hypoplasia of corpus callosum [50]; intra cranial teratoma [49]; lissencephaly [23] intracranial dermoid cyst [40]; Amold-Chiari malformation [38]; cranium bifidum, dolichocephaly, microcephaly and many other skull anomalies [4-7, 15, 21, 48]; limb hypoplasia with weakness of respective muscle groups [34]; Klippel-Feil anomaly of cervical spine [26] and many other malformations of the spinal column [21,44] and absence of spinal cord amyelia [52], It has been suggested that there is a marked degree of correlation between the degree of facial hypoplasia and the severity of mental retar dation [8].…”