𝔖 Bobbio Scriptorium
✦   LIBER   ✦

Facial appearance in persistent hyperinsulinemic hypoglycemia

✍ Scribed by de Lonlay, Pascale ;Cormier-Daire, Valérie ;Amiel, Jeanne ;Touati, Guy ;Goldenberg, Alice ;Fournet, Jean-Christophe ;Brunelle, Francis ;Nihoul-Fékété, Claire ;Rahier, Jacques ;Junien, Claudine ;Robert, Jean-Jacques ;Saudubray, Jean-Marie


Publisher
John Wiley and Sons
Year
2002
Tongue
English
Weight
133 KB
Volume
111
Category
Article
ISSN
0148-7299

No coin nor oath required. For personal study only.


📜 SIMILAR VOLUMES


Persistent hyperinsulinemic hypoglycemia
✍ Glaser, Benjamin ;Phillip, Moshe ;Carmi, Rivka ;Lieberman, Ester ;Landau, Heddy 📂 Article 📅 1990 🏛 John Wiley and Sons 🌐 English ⚖ 455 KB

Persistent Hyperinsulinemic Hypoglycemia of Infancy (PHHI) is a rare disease characterized clinically by persistent hypoglycemia with inappropriately elevated circulating insulin concentrations. Here we report on 7 pedigrees including 21 cases. The pedigrees are derived from 3 distinct ethnic groups

Full mosaic monosomy 22 in a child with
✍ Pinto-Escalante, Doris; Ceballos-Quintal, Jose M.; Castillo-Zapata, Ileana; Cant 📂 Article 📅 1998 🏛 John Wiley and Sons 🌐 English ⚖ 24 KB 👁 2 views

We describe an abnormal premature male infant with mosaic monosomy of chromosome 22. He had a unique facial appearance, similar to those with DiGeorge syndrome, and hypertonicity, limitation of extension at major joints, and flexion contractures of all fingers. This rare chromosomal aberration has b

Progeroid syndrome with characteristic f
✍ Giannotti, Aldo; Digilio, Maria Cristina; Mingarelli, Rita; Marino, Bruno; Dalla 📂 Article 📅 1997 🏛 John Wiley and Sons 🌐 English ⚖ 23 KB 👁 2 views

We report on the father-to-son transmission of a progeroid syndrome characterized by facial anomalies, sparse subcutaneous fat, and hand anomalies including syndactyly, camptodactyly, and finger deviation. Mild mental retardation, microcephaly, and congenital heart defect were found only in the son.