Table 1.

Clinical and radiographic phenotype of ATD and the R05‐365A and Cmh001543‐01 and ‐02 cases

Clinical and Radiographic Phenotype	ATD/Jeune syndrome	R05‐365A	Cmh001543‐01 and ‐02
Autosomal recessive	+	+	+
Retinal insufficiency (age dependent)	+	−	−
Pulmonary insufficiency/hypoplasia	+	+	+
Polycystic liver disease/hepatic fibrosis (age dependent)	+	−	−
Cystic kidneys/chronic renal failure (age dependent)	+	−	−
Congenital heart defect	+	+	−
Ascites	+	+	−
Lethality due to pulmonary hypoplasia	+	+	+
Long narrow thorax	+	+	+
Short horizontal ribs	+	+	+
Handlebar clavicles	+	−	+
Small pelvis	+	+	+
Hypoplastic iliac wings (infancy)	+	+	+
Short long bones	+	+	+
Irregular metaphyses	+	+	+
Short fibulae (relative)	+	+	Unknown
Short ulnae (relative)	+	+ (bowed)	Unknown
Brachydactyly	+	Unknown	Unknown
Cone‐shaped epiphyses (childhood)	+	Unknown	Unknown
Occasional polydactyly	+	−	−

R05‐365A, International Skeletal Dysplasia Registry Number, +, present, −, absent.