Table 1.

Clinical and Radiological Features in Patients with Mesomelia-Synostosis Syndrome

Patient	F.1 I-1	F.1 II-2	F.2 II-3	F.3 II-1	F.4 II-1
Polyhydramnios	NA	-	+	-	+
Craniofacial
Palpebral fissures downslanted	+	+	+	+	+
Eyelid ptosis	+	+	+	+	+
Telecanthus	+	+	±	+	+
Hypoplasia soft palate; absent uvula	+	+	+	+	+
Mild micrognathia	+	+	+	+	+
Short sublingual frenula; excess frenula	+	+	NA	NA	NA
Cognitive and Sensory Functions
Developmental delay	-	-	-	-	-
Speech with nasal quality	+	+	+	+	+
Myopia	+	+	-	-	-
Hearing deficit	+	-	-	-	-
General Physical Features
Short stature	+	+	+	+	+
Complex congenital heart defect	-	-	+	-	+
Umbilicus; short cord; excess skin; hernia	+	+	-	NA	+
Congenital hydronephrosis	NA	-	+	+	+
Limited motion in joints	+	+	+	+	+
Mesomelic bowing and shortening in both upper and lower limbs	+	+	+	+	+
Complex brachydactyly (postaxial)	+	+	+	+	+
Ulnar deviation of hands	+	+	+	+	+
Narrow, short feet	+	+	+	+	+
Brachydactylic toes (fibular side)	+	+	+	+	+
Dysfunctional ankle joints	+	+	+	+	+
Radiological Features
Proximal carpometacarpal fusion	+	+	+	+	+
Shortened phalanges	+	+	+	+	+
Mild bowing of distal part of femora	+	+	+	+	-
Medial bowing tibial diaphyses	+	+	+	+	+
Shortened metatarsals	+	+	+	+	-
Tarsometatarsal synostoses	+	+	+	+	+

Notation is as follows: +, present; -, absent; F., family; NA, not available.