Midline field defects and Hirschsprung disease

✍ Scribed by Say, Burhan; Smith, Donna P.

• Publisher: John Wiley and Sons
• Year: 1996
• Tongue: English
• Weight: 3 KB
• Volume: 61
• Category: Article
• ISSN: 0148-7299
• DOI: 10.1002/(sici)1096-8628(19960122)61:3<293::aid-ajmg17>3.0.co;2-o

✦ Synopsis

Recently we saw an infant who had midline defects and Hirschsprung disease, which brought to mind the paper by Jespers et al. [1993] on 2 sibs with similar defects. Those children were born to healthy, consanguineous parents, suggesting autosomal recessive inheritance. The authors concluded that their patients either represented a new entity or were examples of variable expression of Toriello-Carey syndrome [Toriello and Carey, 19881. We are reporting on our patient to increase knowledge regarding this intriguing combination of malformations.

CLINICAL REPORT

This male infant, who is now 3 months old, was born to a 22-year-old G2, P1 mother after a term uncomplicated pregnancy and labor. Apgar scores were 8 and 9 a t one and 5 minutes, respectively, and the birth weight was 3,530 g. The father is 32 years old, and there is no consanguinity between the parents. The mother's first child is a healthy 2-year-old girl by a different union. The father has no other children. There was no known teratogenic exposure during pregnancy except for cigarette smoking. The family history on both sides was unremarkable.

A physical examination soon after birth showed a wide fontanel (10 x 5 cm), unilateral cleft lip and palate (CLP), nose deviated to the left, and apparently low-set ears. There was a simian crease on the left palm with a n incomplete one on the right, tapering fingers with hypoplastic nails, absent right fifth toe, and on the left foot the 4th and 5th toes were fused. Routine hematology and chemistry studies and urinalysis were normal. High resolution chromosome analysis showed a normal male karyotype, 46,XY.

By the third day after birth, the child's condition was stable, and he was tolerating breastmilk and feeding well. Therefore, he was discharged to home with plans for a plastic surgery consult for the cleft defects within