New syndrome: Familial proportionate short stature, intrauterine growth retardation, and recurrent locking of the fingers
✍ Scribed by Eng, Charis E. L. ;Strom, Charles M. ;Fraser, F. Clarke ;Preus, Marilyn
- Publisher
- John Wiley and Sons
- Year
- 1987
- Tongue
- English
- Weight
- 344 KB
- Volume
- 26
- Category
- Article
- ISSN
- 0148-7299
No coin nor oath required. For personal study only.
✦ Synopsis
Prenatal history. Unenventful gestation of 36 weeks. Birth history. Born by cesarean section due to cephalopelvic disproportion. BW 2528 g ( < 3rd centile), BL 39.1 cm (< < 3rd centile), OFC within normal limits.
Family history. Mother had a similar syndrome, born at term with a BW of 2272 g (< 3rd centile), BL 45.2 cm ( < 3rd centile), and an adult height of 129.5 cm (< < 3rd centile). Her mother was 41 and her father was 49 years of age at time of her birth. She experienced intermittent locking of all her fingers, such that a fist was formed and required traction to reduce. In addition, stiffness, swelling, and pain were continuously present in all interphalangeal joints. A ventricular septa1 defect was present. Death occurred at age 23 years of myocardial infarction during emergency laparotomy to correct ovarian torsion. One sister is well with normal stature and hands. Maternal grandparents are of normal stature. History of the mother, deceased, was elicited from her husband and her grandmother. Photographs of the mother were examined. There was no consanguinity.
Clinical Examination at Age 9 Years
Head, face, torso. There were mild pectus excavatum and scoliosis. The head, face, neck, and trunk were otherwise normal and proportioned. Upper segment/lower segment ratio was 1.09 (Fig. 1A). Head size was proportional to body size.