[Jarcho-Levin syndrome associated with maternal hypothyroidism].

BACKGROUND: Jarcho Levin syndrome is an eponymous syndrome consisting with a set of multiple vertebral and rib anomalies, characterized by a short neck, short trunk and short height, which trigger respiratory failure and early neonatal death. The frequency and spectrum of morphological defects in the environment is unknown. This article reports a case.

CASE REPORT: a female newborn, product of the third pregnancy in a woman of 29 years, with a history of three previous miscarriages; she had a twin pregnancy and hypothyroidism later. Prenatal ultrasound performed at 28-29 weeks of gestation showed polyhydramnios, mild duodenal atresia, likely annular pancreas, and agenesis of lumbar vertebrae. At birth, turreted skull, short neck, thoracoabdominal dissociation, anal stenosis, hypotrophic external genitalia, hypoplastic pelvic limbs, and popliteal hyperflexion were found. Imaging identified intestinal atresia, scoliosis, lumbar vertebrae agenesis, and defects of segmentation on fourth and fifth right ribs. Laparotomy confirmed malrotation of the small intestine and colon, and complete annular pancreas with Meckel diverticulum.

CONCLUSIONS: this syndrome is a set of phenotypes derived from skeletal malformations and other defects. The outcome depends on the severity and quality.