Sadeghimoghadam Parvaneh, Shirdel Saeedeh, Hantoushzadeh Sedigheh, Hashemi Zeinab, Ghaemi Marjan
Department of Pediatrics, Vali-E-Asr Hospital, Imam Complex Tehran University of Medical Sciences Tehran Iran.
Vali-E-Asr Reproductive Health Research Center Family Health Research Institute, Tehran University of Medical Sciences Tehran Iran.
Clin Case Rep. 2023 Jul 12;11(7):e7678. doi: 10.1002/ccr3.7678. eCollection 2023 Jul.
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.
致死性多发性翼状胬肉综合征是一种非常罕见的遗传性疾病。这种病症的表现包括胎儿生长发育迟缓、颅面畸形、关节挛缩和皮肤蹼状赘生物（翼状胬肉）。这种疾病在出生前或出生后不久即致命。我们报告了一例致死性多发性翼状胬肉综合征病例，伴有多种异常，包括累及腋窝、双侧肘前窝和腹股沟的翼状胬肉。多关节挛缩累及多个上下肢关节。腭裂、小口畸形和张口受限、蹼颈、不对称的狭小胸廓、生殖器模糊、鼻梁凹陷且宽阔、内眦赘皮、低位、畸形且向后旋转的耳朵、翼状胬肉、并指畸形和手指屈曲畸形以及摇椅底足。致死性多发性翼状胬肉综合征是一种具有多种异常的先天性遗传疾病，在妊娠中期和晚期或出生后不久即致命。通过基因检测和咨询，可以防止其在后续妊娠中复发。
