✍ Scribed by �zden, Sel�uk; Fi�icio?lu, Cem; Kara, Mustafa; Oral, �zay; Bilgi�, Remziye
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The first case of agnathia-holoprosencephaly and situs inversus totalis was reported by Leech et al. [1988]. Subsequent cases were reported by Robinson and Lenke [1989], Meinecke et al. [1990], and Persuette et al. [1990].
A 22-year-old, primigravid woman at 26 weeks of gestation was referred for polyhydramnios and an abnormally small fetal head was detected on ultrasonographic examination. Consanguinity, exposure to teratogenic factors, and infectious diseases during gestation were denied. A male infant was delivered vaginally shortly after hospitalization and died 5 min later. At autopsy, length, weight, and head circumference were 39 cm, 1,050 g, and 27 cm (<5 th centile), respectively. He had synophthalmia with frontal proboscis and agnathia. At the lower end of the face there was a proboscis-like protuberance of soft tissue, under which a centrally located blind-ending orifice 1 mm in diameter and 2 cm in depth (microstomia) was present, The tongue was absent (aglossia). Ears were extremely low-set, but not fused in the midline. The external appearance of the limbs, abdomen, and chest were normal (Fig. 1).
The fetus was found to have situs inversus totalis, with heart, stomach, spleen, pancreas, and bilobed lung on the right side and liver, caecum, and trilobed lung on the left (Fig. 2). Diaphragm and four chambers of the heart appeared normal. Aortic arch descended towards the right side. There was alobar holoprosencephaly with hypoplastic optic chiasm, fused thalami, single midline ventricle, absence of olfactory bulbs, and hypoplastic cerebellum. A thin-walled cystic formation was located between the cranium and brain tissue in the parieto-occipital region. When the cyst was opened, it was found to be in continuity with the single cerebral ventricle (agenesis of the corpus callosum). There were no abnormalities of placenta or umbilical cord. All internal organs were histologically normal. Cytogenetic analysis from blood showed a normal male chromosome constitution, 46 XY. Agnathia-holoprosencephaly is a developmental field defect [Bixler et al., 1985].
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