Korean J Obstet Gynecol.  2012 Sep;55(9):669-672. 10.5468/KJOG.2012.55.9.669.

A case of arthrogryposis multiplex congenita associated with maternal septate uterus

• Kim HK
• Oh HK
• Hong SY

• KMID: 2274141
• DOI: http://doi.org/10.5468/KJOG.2012.55.9.669

Abstract

Arthrogryposis multiplex congenita (AMC) is a congenital disorder showing multiple joint contractures. Although there are characteristic features in morphology, it is difficult to diagnose prenatally by ultrasonography. The causes of AMC include abnormalities of central nervous system, myopathies, connective tissue disorders, and intrauterine environmental factors such as oligohydramnios or uterine anomalies. We describe a case of prenatally diagnosed and postnatally evaluated AMC associated with maternal septate uterus.

Keyword

Arthrogryposis multiplex congenita; Septate uterus; Prenatal diagnosis

MeSH Terms

Arthrogryposis
Central Nervous System
Congenital, Hereditary, and Neonatal Diseases and Abnormalities
Connective Tissue
Contracture
Female
Joints
Muscular Diseases
Oligohydramnios
Pregnancy
Prenatal Diagnosis
Urogenital Abnormalities
Uterus
Arthrogryposis
Urogenital Abnormalities
Uterus

Figure

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  Fig. 1 Coronal scan of gravid uterus shows that a thick septum is extended to lower uterine cavity. The head and upper portion of the fetus is located in the right uterine cavity and lower portion in the left cavity (arrow, septum).

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  Fig. 2 3-D scan image of multiple joint contractures (S, setum; arrow, wrist deformity and club foot).

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  Fig. 3 Gross appearances of the fetus with multiple joint contractures corresponding arhtrogryposis multiplex congenita.

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  Fig. 4 (A) High power microscopic findings of calf muscle shows mild size variation of skeletal muscle fiber and interstitial edema (H&E, ×400). (B) Electron microscope shows well preserved myofbrils and sarcomeres (arrow). There is no abnormal mitochondria nor cytoplasmic inclusion (×1,500).

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