Lethal multiple pterygium syndrome in a newborn, a case report

Abstract

Lethal multiple pterygium syndrome is a very rare genetic disorder. The manifestations of this condition include growth deficiency of the fetus, craniofacial anomalies, joint contracture, and skin webbing (pterygia). This disorder is fatal before birth or shortly after birth. We reported a case of lethal multiple pterygium syndrome with multiple anomalies including pterygia involving the axilla, bilateral antecubital fossa, and groin. Arthrogryposis involving multiple lower and upper extremities joints. Cleft palate, microstomia and limitation of mouth opening, webbed neck, asymmetric small and narrow chest, ambiguous genitalia, depressed and wide nasal bridge, antemongoloid slant, low-set, malformed, and posteriorly rotated ears, pterygia, syndactyly and camptodactyly of hands and rocket bottom feet. LMPS is a congenital genetic disease with multiple anomalies that is fatal in the second and third trimesters of pregnancy or shortly after birth. With genetic testing and counseling, it can be prevented from recurring in subsequent pregnancies.

Keywords: congenital disorders; genetic counseling; genetic screening; multiple pterygium syndrome; musculoskeletal anomaly.

FIGURE 1

(A–D): Anomalies features that are shown with numbers: 1‐ cleft palate, 2‐ camptodactyly, 3‐ pterygia, 4‐ ambiguous genitalia, 5‐ club foot, 6‐ depressed nasal ridge, and 7‐ low‐set ear.