A case of Costello with parathyroid adenoma and hyperprolactinemia

A 23‐year‐old female with Costello syndrome is presented. She had mental retardation, macrocephalia, “coarse” facial features, deep palmar and plantar creases, hyperkeratosis in palms and soles, hyperpigmentation, curly hair, and cutis laxa, which are among the diagnostic features of the syndrome, a...

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Veröffentlicht in:American journal of medical genetics 2004-01, Vol.124A (2), p.196-199
Hauptverfasser: Cakir, Mehtap, Arici, Cumhur, Tacoy, Sukran, Karayalcin, Umit
Format: Artikel
Sprache:eng
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Zusammenfassung:A 23‐year‐old female with Costello syndrome is presented. She had mental retardation, macrocephalia, “coarse” facial features, deep palmar and plantar creases, hyperkeratosis in palms and soles, hyperpigmentation, curly hair, and cutis laxa, which are among the diagnostic features of the syndrome, and a history of hyperprolactinemia since the age of 16. Her present complaint was weakness and widespread bone‐pain. In routine biochemistry, she had an elevated calcium level of 11.1 (8.6–10.2) mg/dl and her DEXA evaluation was consistent with osteoporosis (vertebra and femur T score
ISSN:1552-4825
0148-7299
1552-4833
1096-8628
DOI:10.1002/ajmg.a.20361