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Aarskog syndrome: report of a family with review and discussion of nosology.
Teebi AS, Rucquoi JK, Meyn MS. Teebi AS, et al. Am J Med Genet. 1993 Jun 15;46(5):501-9. doi: 10.1002/ajmg.1320460508. Am J Med Genet. 1993. PMID: 8322809 Review.
Secondary criteria include: abnormal auricles with fleshy lobules, posteriorly angulated ears, widow's peak, ptosis, downward slant of palpebral fissures, joint hyperextensibility, broad feet with bulbous toes, cryptorchidism, inguinal hernia, and prominent umbilicus …
Secondary criteria include: abnormal auricles with fleshy lobules, posteriorly angulated ears, widow's peak, ptosis, downward slant of palpe …
High bone mass associated with berardinelli lipodystrophy.
Bandeira FF, Miranda CR, Waechter C, Bandeira ME. Bandeira FF, et al. Endocr Pract. 2007 Nov-Dec;13(7):764-9. doi: 10.4158/EP.13.7.764. Endocr Pract. 2007. PMID: 18194934
RESULTS: Physical examination of the patient revealed an acromegalic appearance with enlarged hands and feet, absence of subcutaneous adipose tissue, acanthosis nigricans, and a prominent umbilicus. Clinical and laboratory findings improved during her hospitalizatio …
RESULTS: Physical examination of the patient revealed an acromegalic appearance with enlarged hands and feet, absence of subcutaneous adipos …