Progressive and symmetric supraorbital hyperostosis with bony and soft tissue overgrowth in an Ethiopian female: a newly recognized overgrowth syndrome?
We report on an Ethiopian female with generalized overgrowth of postnatal onset accompanied by progressive and symmetric overgrowth of skeletal and soft tissues. Her phenotype consisted of progressive and symmetric overgrowth of the supraorbital ridges, glabella, occiput, cervical spine, and distal phalanges of all extremities, but particularly the 3rd and 4th digits. She also has overgrowth of soft tissues of the posterior neck (thought to be fatty in origin), alveolar hyperplasia, and overgrowth of the skin comprising the areola and umbilicus. Other clinical findings included obstructive sleep apnea and normal intelligence. A genetic workup of extended banding chromosome analysis and chromosomal microarray were normal, as were PTEN and FNLA mutation analyses. Histologic examination of the excised supraorbital ridges demonstrated normal bone. However, the bone began to regrow in a symmetric fashion within 3 months of removal. This patient's phenotype is at variance with any known overgrowth syndrome.
Adam
Margaret P
MP
Department of Human Genetics, Division of Medical Genetics, Emory University School of Medicine, Atlanta, Georgia 30030, USA. madam@genetics.emory.edu
Kobori
Joyce A
JA
Cusmano-Ozog
Kristina
K
Chen
Kelly M
KM
Hoyme
H Eugene
HE
D000015:Abnormalities, Multiple / Q000473:pathology; D001842:Bone and Bones / Q000000981:diagnostic imaging; D005002:Ethiopia; D005147:Facial Bones / Q000473:pathology; D005260:Female; D006130:Growth Disorders / Q000175:diagnosis* / Q000473:pathology; D006801:Humans; D015576:Hyperostosis / Q000175:diagnosis* / Q000473:pathology; D007223:Infant; D010641:Phenotype; D011859:Radiography; D013577:Syndrome