Table 1

Clinical features of the exomphalos-short limbs-macrogonadism syndrome

		Family 1				Family 2				Family 3		Total
		Fetus 1	Fetus 2			Fetus 1	Fetus 2			Fetus 3	Fetus 1	Total	Fetus 2
Age at diagnosis (wk)	16.5	16		16	14	16		9	13	9–16.5 wk
Age at examination (wk)	17	17		24	15	17		15.5	14	14–24 wk
Spontaneous death	−	−		+	+	−		−	−	2/7
Sex	M	M		M	F	M		M	M	6M/1F
Exomphalos	+	+		+	+	+		+	+	7/7
Short limbs	+	+		+	+	+		+	+	7/7
Irregular metaphyses	+	+		+	+	+		+	+	7/7
Nuchal web	+	+		+	+	+		Hygroma	Hygroma	7/7
Facial dysmorphism	+	+		+	+	+		+	+	7/7
Macrogonadism	+	+		?	+	+		+	+	6/6
Gonadal cell hyperplasia	+	+		?	+	+		+	+	6/6
Adrenal cytomegaly	+	+		−	+	+		+	+	6/7
Langherans cell hyperplasia	−	−		−	+	+		+	+	4/7
Abnormal kidneys	+	+		−	+	+		−	−	4/7
Associated malformations	Common mesentery	Caudal appendix Cleft palate		Toe abnormalities	Hemiuterus Ear	Lung hypoplasia		Microgyria Cerebellar	Microgyria Cerebellar
	Meckel diverticulum	Vertebral abnormalities			creases			hypoplasia Large fontanelles	hypoplasia Large fontanelles
	Hypoplastic penis
	Balanic hypospadias