Can Hutchinson-Gilford progeria syndrome be a neonatal condition?

✍ Scribed by Faivre, L.; Van Kien, Ph. Khau; Madinier-Chappat, N.; Nivelon-Chevallier, A.; Beer, F.; LeMerrer, M.

• Publisher: John Wiley and Sons
• Year: 1999
• Tongue: English
• Weight: 18 KB
• Volume: 87
• Category: Article
• ISSN: 0148-7299
• DOI: 10.1002/(sici)1096-8628(19991222)87:5<450::aid-ajmg16>3.0.co;2-t

✦ Synopsis

reported on a fetus with neonatal Hutchinson-Gilford progeria syndrome (HGPS) in a recent issue of this journal. We have been involved with a similar child with some manifestations in common with this fetus. We suggest that a diagnosis of neonatal HGPS is incorrect in both cases and, in fact, that HGPS does not manifest itself as a neonatal condition.

Our patient, a girl, was born at 38 weeks of gestation to a healthy 32-year-old gravida 2 para 1 mother and a 33-year-old father. The parents were nonconsanguineous. The pregnancy was uneventful until the end of the third trimester when an ultrasound survey demonstrated oligohydramnios and intrauterine growth retardation (IUGR). At birth, length was 43.8 cm, weight 1,700 g, and OFC 28.5 cm. Physical examination (Fig. ) showed a progeroid appearance, no subcutaneous fat, wrinkled and thin skin, large and multiple angiomas from the top of the skull to the base of the spine, prominent veins, and umbilical hernia. Facial anoma-