Table 1

Clinical and radiographic features of four Desbuquois dysplasia patients

	Patient 1, family 1	Patient 2, family 2	Patient 3, family 3	Patient 4, family 4
?: unknown.
Previous report	Le Merrer et al³, case 1	Not reported	Al-Gazali et al⁵	Gillessen-Kaesbach et al², case 3
Origin	French	Sri-Lanka	United Arab Emirates	Morocco
Sex	M	M	M	M
Parental consanguinity	+	+	+	+
Early death	−	+	−	+
Birth length	43 cm	34 cm	?	37 cm
Facial dysmorphism	+	+	+	+
Joint laxity	+	+	+	+
Dislocated joints	+	+	+	+
Mental retardation	−	?	?	+
Visceral malformations	−	Atrial septal defect	−	−
“Swedish key”	+	+	+	+
Advanced carpal/tarsal bone age	+	+	+	+
Typical hand anomalies	+	+	+	+