American Journal of Medical Genetics 43:630-631 (1992)
Letter to the Editor
Tetra-Phocomelia With Multiple Malformations: X-Linked Amelia, or Roberts Syndrome, or DK-Phocomelia Syndrome? To the Editor: Gershoni-Baruch et al. C19901 have reported in this journal clinical and pathological findings of a probably new X-linked syndrome of tetra-amelia, facial clefts, absence of ears, and atresia ani, affecting 7 male infants or fetuses in one kindred. We recently have the opportunity to examine a male infant who showed some similarities with the disorder detailed by Gershoni-Baruch et al., 119901 and previously by Zimmer et al., [19851. The patient was a male infant born to a 28-year-old woman; premature labor began at 38 weeks of gestation. No fetal movements and polyhydramnios were noted during pregnancy. There was no history of alcohol, drug abuse, infections, any other teratogenic exposure, or trauma. Serum glucose during pregnancy was normal. The mother’s first pregnancy had resulted in a healthy girl. The infant’s birthweight was 800 g (
Letter to the Editor
Tetra-Phocomelia With Multiple Malformations: X-Linked Amelia, or Roberts Syndrome, or DK-Phocomelia Syndrome? To the Editor: Gershoni-Baruch et al. C19901 have reported in this journal clinical and pathological findings of a probably new X-linked syndrome of tetra-amelia, facial clefts, absence of ears, and atresia ani, affecting 7 male infants or fetuses in one kindred. We recently have the opportunity to examine a male infant who showed some similarities with the disorder detailed by Gershoni-Baruch et al., 119901 and previously by Zimmer et al., [19851. The patient was a male infant born to a 28-year-old woman; premature labor began at 38 weeks of gestation. No fetal movements and polyhydramnios were noted during pregnancy. There was no history of alcohol, drug abuse, infections, any other teratogenic exposure, or trauma. Serum glucose during pregnancy was normal. The mother’s first pregnancy had resulted in a healthy girl. The infant’s birthweight was 800 g (
