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Lethal neonatal Hutchinson-Gilford progeria syndrome

✍ Scribed by Rodr�guez, Jos� I.; P�rez-Alonso, Pablo; Funes, Rosa; P�rez-Rodr�guez, Jes�s

Publisher: John Wiley and Sons
Year: 1999
Tongue: English
Weight: 67 KB
Volume: 82
Category: Article
ISSN: 0148-7299
DOI: 10.1002/(sici)1096-8628(19990129)82:3<242::aid-ajmg9>3.0.co;2-e

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✦ Synopsis

We report on a 35-week gestation female fetus with Hutchinson-Gilford progeria (HGP). This patient, who is the first reported with neonatal HGP in the English literature but is the fourth, counting three previous French cases, supports the existence of a more severe prenatal form of progeria. She died 7 hours after birth and presented with intrauterine growth retardat i o n , p r e m a t u r e a g i n g , a b s e n c e o f subcutaneous fat, brachydactyly, absent nipples, hypoplastic external genitalia, and abnormal ear lobes. The child's combination of clinical and skeletal manifestations differentiates this form of HGP from other progeroid syndromes with neonatal presentation. We also report previously undescribed autopsy findings including premature loss of hair follicles, premature regression of the renal nephrogenic layer, and premature closure of the growth plates in the distal phalanges that may be related to the aging processes in this condition. We could not find any histological data to support acro-osteolysis, which is the radiographic sign of brachydactyly. The terminal phalanges in HGP seem to be underdeveloped rather than osteolytic. Am.

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