Table 2.

Clinical biological, radiological and molecular profiles of the 15 cases of ACRO and PHP.

Group	Cases	Sex	Gestational (weeks)	Birth weight (kg)	Birth length (cm)	Shortness metacar pals	Corn-shaped epiphysis	Family history	Round face/obese	Gene	Variant
Group A	A-1	F	40	2.3	46.0	II–V	II–V	(+)	−/−	PDE4D	NM_001104631:c.683A>C;p.(Q228P)
	A-2	M	40	2.2	46.0	II–V	II–V	(+)	−/−	PDE4D	NM_001104631:c.683A>C;p.(Q228P)
Group B	B-1	M	39	2.1	45.0	II–V	II–V	(−)	−/+	ND
	B-2	M	39 weeks + 4 days	2.3	NA	II–V	V	(−)	−/+	NE
	B-3	M	37 + 6 days	1.8	42	IV–V	V	(−)	−/−	PRKAR1A	NM_002734:c.593G>A;p.(Q198E)
	B-4	F	42	2.4	NA	II–V	II–V	(−)	−/−	NE
	B-5	F	40	3.4	NA	III–V	IV–V	(−)	−/−	NE
	B-6	F	30 + 5 days	0.64	31.0	II–V	II–V	(−)	−/+	PRKAR1A	NM_002734:c.1004G>C; p.(R335P)
Group C	C-1	M	39 + 4 days	2.7	46.0	III–V	IV–V	(+)	+/+	GNAS	NM_000516:c.493C>T;p.(R165C)
	C-2	F	40	2.9	37.5	IV–V	(−)	(−)	+/+	ND
	C-3	M	NA	NA	NA	IV–V	(−)	(−)	+/+	NE
	C-4	F	40	3.5	NA	IV–V	(−)	(−)	+/+	NE
	C-5	M	36 + 2 days	2.3	NA	IV–V	(−)	(+)	+/+	ND
	C-6	F	36 + 2 days	2.8	47.5	IV–V	(−)	(+)	+/+	ND
	C-7	F	40 + 3 days	2.9	46.0	IV–V	(−)	(+)	+/+	GNAS	NM_000516:c.863T>A;p.(I288N)

NA, not available; ND, not detected; NE, not examined.