A case of agnathia, situs inversus, and a normal central nervous system.
We report here a premature female infant with agnathia, low-set but normally formed ears, a downward eye slant, choanal atresia and a cleft palate. She had severe respiratory distress and died despite maximum intervention at 5 days of age. Autopsy revealed situs inversus totalis; crossed fused renal ectopia; agnathia; normal thyroid, larynx, trachea, and bronchi; incomplete lobation of the lungs; immature pulmonary development with early hyaline membranes; and a normal central nervous system. This lack of significant central nervous system abnormalities distinguishes this infant from the majority of previously reported infants with agnathia and situs inversus.
Stoler
J M
JM
Embryology-Teratology Unit, Massachusetts General Hospital, Boston.
Holmes
L B
LB
D000015:Abnormalities, Multiple / Q000473:pathology*; D001344:Autopsy; D005260:Female; D006801:Humans; D007231:Infant, Newborn; D008334:Mandible / Q000002:abnormalities*; D011247:Pregnancy; D012857:Situs Inversus / Q000473:pathology*