Case 91 -- Loss of Body Weight, Facial and Skeletal Abnormalies

Contributed by Jianzhou Wang, MD, PhD., Mohamed A. Virji, MD, PhD, and David Finegold, MD.
Published on line in January 1997


A three week old female neonate was transferred to Children’s Hospital with poor muscle tone, poor sucking, lack of interest in feeding, diarrhea, and weight loss (birth weight 2.5 kg, weight at admission 2.1 kg). The patient was noted to have a number of dysmorphic features which included cleft palate, fish mouth, syndactyly , hypoplasia of the left thumb, a single palmar crease, and cataract of the right eye.

The patient’s perinatal history was significant for decreased fetal movement at 30 weeks, breech presentation, and poor growth during the last 3-4 weeks of gestation. Ultrasound examinations at 20, 30 and 34 weeks were unremarkable, and maternal serum AFP was normal. The patient was delivered at 39 weeks gestation with C-section, her Apgar scores were 6 at 1 minute and 8 at 5 minute. The patient had two episodes of turning "blue", which was resolved spontaneously. The patient also had a history of patent ductus arteriosus which was closed surgically. After the sugery, the patient was found to have elevated blood pressure which was treated with captopril.

The patient’s family reported that no other family members have similiar congenital anormalies.




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