title: Fetal head anomaly restricted to the eye, the mandible, and the pterygoid process of the sphenoid: a histological study.
abstract: A report on an unusual combination of anomalies in the head of a female fetus. The authors examined whole body semiserial paraffin sections of a female fetus (155 mm CRL; ∼18 weeks of gestation), with a particular focus on the head region. Cranial autonomic ganglia, nasal olfactory cells, and the orbital muscle were investigated using immunohistochemistry for tyrosine hydroxylase, vasoactive intestinal peptide, calretinin, and smooth muscle actin expression. The surface gross anatomy of the fetus appeared normal. The left eyeball lacked a lens (the eyeballs were otherwise normal). The orbital muscle was very thick and located in the anterolateral side of the extraocular muscles. Conversely, the extraocular muscles made a cluster in the superoposterior side of the orbit. The infratemporal fossa was small due to the bulky, transversely extended lateral pterygoid process in contrast to the small coronoid process of the mandible. The bilateral mandibular bases overlapped at the midline symphysis. The thin orbitosphenoid and thick alisphenoid provided an almost flat, anterior cranial base. Nasal olfactory cells and cranial autonomic ganglia appeared to be normal. No major anomaly was observed in the brain. Because of the changes in topographical anatomy, the orbital muscle probably lost its normal bony attachment and appeared to push the extraocular muscles superoposteriorly. A gene function redundancy rather than mutation may explain the present restricted anomalies in the mandible and pterygoid process.
authors.affiliation: Department of Surgery, Chonbuk National University Medical School, Jeonju, Korea.
authors.forename: Zhe Wu
authors.initials: ZW
authors.lastname: Jin
authors.forename: Chun Ai
authors.initials: CA
authors.lastname: Li
authors.forename: Ji Hyun
authors.initials: JH
authors.lastname: Kim
authors.forename: Shunichi
authors.initials: S
authors.lastname: Shibata
authors.forename: Gen
authors.initials: G
authors.lastname: Murakami
authors.forename: Baik Hwan
authors.initials: BH
authors.lastname: Cho
mesh_terms: D000015:Abnormalities, Multiple / Q000473:pathology*; D015415:Biomarkers / Q000378:metabolism; D005124:Eye Abnormalities / Q000473:pathology*; D005260:Female; D047109:Fetal Development; D005725:Ganglia, Autonomic / Q000002:abnormalities / Q000378:metabolism; D005865:Gestational Age; D006257:Head / Q000002:abnormalities*; D006801:Humans; D008334:Mandible / Q000002:abnormalities*; D009801:Oculomotor Muscles / Q000002:abnormalities / Q000378:metabolism; D009831:Olfactory Mucosa / Q000002:abnormalities / Q000378:metabolism; D056739:Pterygopalatine Fossa; D013100:Sphenoid Bone / Q000002:abnormalities*
chemical_list: D015415:Biomarkers