Prenatal findings in generalized amyoplasia

Abstract

Amyoplasia is a rare, sporadic condition characterized by different degrees of maldevelopment of the skeletal muscles, which are replaced by fibrous and fatty tissue. In this report, we present a case of generalized amyoplasia presenting at 19 weeks' gestation. The most striking finding was the absence of fetal movements, resulting in severe multiple congenital contractures, hydrops, and polyhydramnios. At autopsy, histological examination of the skeletal muscle showed small groups of poorly developed fibres within areas of fat. This report suggests that generalized amyoplasia could be a common cause of severe forms of multiple congenital contractures, but is probably underdiagnosed at post-mortem because of inadequate examination of muscles. Definitive diagnosis is important in determining the risks of recurrence in these cases.

Changes in fetal motility as a result of congenital disorders: an overview

“…With the literature search beginning in 1970, 48 articles were found, examining 104 fetuses. In 60 cases (36 articles13–48) the motor activity was categorized as hypokinetic and in 44 (15 articles17, 42, 44, 49–60) it was hyperkinetic; three articles reported fetuses with both hypokinetic and hyperkinetic movements17, 42, 44. The 5‐yearly distribution of the articles has been stable since 1980.…”

Pena‐Shokeir phenotype (Fetal akinesia deformation sequence) revisited

“…Prenatal diagnosis of FADS has been reported as early as 12 weeks' gestation related to edema and abnormal limb positioning (Miskin et al, 1979;MacMillan et al, 1985;Shenker et al, 1985;Gagnon et al, 1986;Goldberg et al, 1986;Muller and de Jong, 1986;Johnson et al, 1987;Morse et al, 1987;Socol et al, 1987;Katzenstein et al, 1988;Persutte, 1988;Genkins et al, 1989;Grubben et al, 1990;Sherer et al, 1992;Bacino et al, 1993;Ajayi et al, 1995;Sepulveda et al, 1995;Hyett et al, 1997;Ochi et al, 2001;Witters et al, 2002;Makrydimas et al, 2004). Fetal movement begins centrally at approximately 8 weeks, moving outward and downward so that all limb segments are moving by 12 weeks.…”

Biomechanics of foetal movement

“…Quantification of movement using ultrasound for foetuses affected by arthrogryposis has been performed in only a very small number of arthrogryposis foetuses, with all studies reporting abnormal or absent movement during the period of imaging. The absence of movement in foetuses with arthrogryposis has been reported for scans performed at 19 GW (Baty et al, 1988;Sepulveda et al, 1995), 23 GW (Baty et al, 1988, and 30.5 GW (Goldberg et al, 1986). Dudkiewicz et al (1999) describe a case of distal arthrogryposis type 1, in which the hands and fingers were immobile throughout an ultrasound examination at 23 GW, while there was normal movement of the lower extremities.…”