Table 1

Features of our patient are similar to those of previously reported patients

			Cormier-Daire et al¹
	Present case	Goldblatt et al²	1	2	3	4	5	6	7
UHN, uretrohydronephrosis; MC, multicystic; HN, hydronephrosis; csa, clinically suspected to be absent; a, absent; ns, normal size; r, rudimentary; d, dislocated.
Microcephaly	+	+	+	+	+	+	+	+	+
Agenesis of corpus callosum	+		+	+	–	+	?	–	+
Heterotopia	+
Hypotonia	Central		+	+	+		+	+
Dysmorphic features
Coarse face	+	+	+	+	+	+	+	+	+
Broad/large nose	+	+	+	+	+	+	+	+	+
Micrognathia	+	+	–	+	–	+	+	–	+
Lung disease or respiratory difficulties	+		+	+	–	+	+	–	+
Laryngomalacia	+		+
Flexion deformities
Hips	+		+	+	+	+	+	+	+
Knees	+	+	+	+	+	+	+	+	+
Club feet	+		+	+	+	+	+	+	+
Skeletal survey
Brachydactyly	–			+	+			+
Hip dislocation	–	+	+	+	+			+
Pelvic hypoplasia	–		+	+	+			+
Other	?Scoliosis, ?relative shortness of long bones of legs	Osteoporosis, radial head deformity, scoliosis, coxa vara
Renal anomalies	UHC MC	Ectopic, dysplastic	HN	HN MC	HN	UHN MC	HN	UHN	HN MC
Genital anomalies
Clitoral hypertrophy			+
Scrotal hypoplasia	+	+		+	+	+	+	+	+
Cryptorchidism	+	+		+	+	+	+	+	+
Karyotype	46,XY	46,XY	46,XX	46,XY	46,XY	46,XY	46,XY	46,XY	46,XY
Patellae	csa, ns, d	r, d	a	csa	a	csa	csa	a	csa