Clinical manifestations of terminal osseous dysplasia and pigmentary defects in a young girl.
Terminal osseous dysplasia and pigmentary defects is a rare X-linked dominant disorder with prenatal male lethality. Affected females display multiple systemic abnormalities such as limb deformities and pigmented lesions of the face and scalp. Phenotypic expression of the syndrome varies among the affected individuals. In this case report, we describe the syndromic dental and oral abnormalities in a female child aged 3 and 1/2 years. A widened bigonial width of the mandible and a brachyfacial pattern are observed. Intraoral findings include multiple frenulae, shallow mucobuccal fold, hypodontia, conical incisors, and other developmental structural defects.
Department of Pediatric Dentistry, The University of Texas Health Science Center at San Antonio, Dental School - MSC 7888, 7703 Floyd Curl Drive, San Antonio, TX 78229-3900, USA. linb1@uthscsa.edu
Brent P J
BP
Lin
Michael I J
MI
Lin
William C
WC
Berlocher
D000015:Abnormalities, Multiple; D000848:Anodontia / Q000473:pathology; D001848:Bone Diseases, Developmental / Q000235:genetics / Q000473:pathology*; D002675:Child, Preschool; D003744:Dental Enamel Hypoplasia / Q000473:pathology; D005260:Female; D006801:Humans; D007180:Incisor / Q000002:abnormalities; D008035:Lingual Frenum / Q000002:abnormalities; D008334:Mandible / Q000002:abnormalities; D009056:Mouth Abnormalities / Q000473:pathology*; D010641:Phenotype; D010859:Pigmentation Disorders / Q000235:genetics / Q000473:pathology*; D013577:Syndrome; D014071:Tooth Abnormalities / Q000473:pathology*