Compound heterozygous mutation of MUSK causing fetal akinesia deformation sequence syndrome: A case report

Table 1 Clinical characteristics of the two study fetuses and fetuses with fetal akinesia deformation sequence syndrome in the literature

Article	1		2					3
Fetus number	2		5					11
Nationality	China		Sweden					The Netherlands
Molecular analysis	c.220C >Tc.421delC		c.40dupA, g.113 431 224 dupA					c.1724T > C p.Ile575Thr
Number	1	2	3	4	5	6	7	8	9	10	11	12	13	14	15	16	17	18
GW at birth	25	24 + 6	27	30	18	18	17	41	33 + 4	38 + 1	38 + 4	33 + 1	35	23	32 + 2	22	31	23
Pregnancy outcome	TOP	TOP	Died	IUFD	TOP	TOP	TOP	Died <2 h	Died <1 h	Died 5 d	Died <1 h	IUFD	Died <1 h	TOP	Died <1 h	TOP	Died <2 h	TOP
Prenatal findings
Reduced/absent fetal movement	+	+	+	+	+	+	+	NA	NA	NA	-	+	NA	+	+	+	NA	+
Joint contractures	+	+	+	+	+	+	+	NA	NA	NA	NA	+	NA	+	+	+	NA	+
Polyhydramnios	+	+	+	+	-	-	-	NA	+	+	+	+	+	-	+	-	+	+
FGR	+	+	-	-	-	-	-	NA	+	-	-	-	-	-	+	-	-	-
Subcutaneous edema	+	+	+	+	-	-	-	NA	NA	NA	NA	-	NA	-	-	-	NA	-
Fetal stomach not visualized	+	+	+	+	+	+	+	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA
Hydrothorax	-	-	+	+	-	-	-	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA
Micrognathia	+	+	-	-	-	-	-	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA
Postnatal findings
Birth weight	NA	890	NA	NA	NA	NA	NA	2700	1870	3470	3250	1363	1910	551	1610	408	1250	490
Sex of fetus	F	F	F	F	M	M	F	F	F	M	M	F	M	M	M	F	F	M
Flex hips	NA	+	+	+	+	+	-	+	+	-	+	+	-	+	+	+	NA	+
Hyperextended knees	NA	+	+	+	+	+	-	NA	+	-	+	+	-	+	+	-	NA	-
Flexed elbows	NA	+	+	+	+	+	+	NA	+	-	-	+	-	+	+	-	NA	-
Clenched fingers	NA	+	+	+	+	+	+	NA	+	+	+	+	+	+	+	+	NA	+
Club/rocker feet	NA	+	+	+	+	+1	+	+	+	-	+	-	+	+	+	+	-	+
Low set ear	NA	+	+	+	-	-	+	NA	+	-	-	+	NA	+	+	+	+	-
Hypertelorism	NA	-	NA	NA	NA	NA	NA	NA	+	+	-	+	NA	+	+	+	-	+
Micrognathia	NA	+	+	-	+	+	+	+	-	+	-	+	-	+	+	+	-	+
Cleft palate	NA	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
Edema	NA	+	+	-	-	-	+	NA	-	-	+	-	-	+	+	-	-	+
Pulmonary hypoplasia	NA	+	+	+	-	-	+	+	+	+	+	+	+	+	+	+	NA	+

¹The fetus had feet deformity. +: Present; -: Absent. Pedigree 1: The two fetuses in our article. Pedigree 2: The five fetuses reported by Wilbe et al[4]. Pedigree 3: The 11 fetuses diagnosed with a c.1724T > C mutation reported by Tan-Sindhunata et al[5]. F: Female; M: Male; GW: Gestational week; NA: Not assessed; FGR: Fetal growth restriction; TOP: Termination of pregnancy; IUFD: Intrauterine fetal death.