A CASE OF OTOCEPHALY WITH ANENCEPHALY AND MENINGOMYELOCELE

Summary: A case ofotocephaly with anencephaly and meningomyelocele: Otocephaly is a rare lethal syndrome with microstomia, aglossia, agnathia, and synotia as major clinical features due to arrest in development of the first branchial arch. Some associated anomalies may be present as cyclopia, holoprosencephaly, cerebellar hypoplasia, situs inversus, and other visceral anomalies. We describe a case of fetus, spontaneously aborted in the 1 4th week of gestation with otocephaly complex (agnathia, synotia, microstomia) and associated anencephaly and meningomyelocele. Key-words: Otocephaly - Anencephaly - Meningomyelocele. INTRODUCTION Otocephaly is a complex abnormality of the first branchial arch with hypoplasia or absence of the mandible (agnathia), ventromedial displacement and often fusion of external ears (synotia or otocephaly), and hypoplasia of the oral cavity (microstomia) and tongue (hypoglossia) (1, 7, 8). The estimated prevalence is of less than 1 in 70,000 (10). There are many cases ofotocephaly with associated cyclopia, holoprosencephaly, cerebellar hypoplasia, situs inversus, and other visceral anomalies (5, 7, 8). But anencephaly is not common with otocephaly. Otocephaly with anencephaly is named as 'Anotocephaly' (11). We describe a case of otocephaly with anencephaly and meningomyelocele. CASE REPORT We describe a spontaneously aborted male fetus in 14th week of gestation of a 27 years old mother. Father was 32 years old. Parents are consanguineous of second degree. Mother's previous spontaneously aborted male fetus might have had a neural tube defect. These parents have a seven years old healthy daughter. Mother has a sister who married with her first degree cousin, and had a spontaneously aborted fetus at 2 months and a stillborn baby at 6 months of gestation. Father has a sister married with a first degree cousin, had a stillborn baby who died in the 6th month of gestation because of brain anomalies. Physical examination of the fetus showed ventromedial displacement of ears, absence of jaw, eyes and nose. There was a pouch of meningomyelocele. External genitalia were normal. X-ray examination revealed absent mandibula, and a severe defect of the cranial bones. Fetal autopsy findings showed that visceral organs were normal. The cranium was poorly developed in the parieto-occipital and cervical region. Microscopic observation of the cyst in the cerebral region showed disorganized cerebral tissue and part of the choroid plexus. DISCUSSION Pauli et al. (7) described two infants from the same parents with otocephaly. They had both agnathia and holoprosencephaly, additional malformations were situs inversus totalis, renal defects, multiple vertebral and rib abnormalities. Later in these cases prometaphase chromosome studies showed a balanced translocation in the father of the two affected infants and an unbalanced translocation in the second of the 2 sibs. One of the breakpoints was at 18p, which is known to be a locus for holoprosencephaly (8). Krassikoffand Sekhon (6) described agnathia-holoprosencephaly in 3 infants, offspring of a man who had a balanced t(6; 18). Erlich et al. reported that 17 cases of nonsyndromic dysgnamia had been reported since 1961 (2) and they suggested that defects of OTX2 gene played a role in the etiology of this syndrome (2). Puvabanditsin et al made a comment that the otocephaly is the most severe form of first branchial arch anomalies and is often associated with field defects involving midline structures (9). Developmental defects of first branchial (or pharyngeal) arch cause otocephaly, due to an insult to the neural crest cells (7). Animal models suggest that otocephaly is the result of heterogeneous developmental defects. …