Table 1.

Features of Turkish patients compared to other reported cases

	Case 1	Case 2	Case3	Case of	Reported cases (n = 35)
			Tüysüz et al. [2009]	Ürel-Demir et al. [2018]
Antenatal findings	+	−	+	−	4
Shortening of extremities	+	+	+	+	35
Short broad hands	+	+	+	+	35
Short puffy broad fingers	+	+	+	+	25
Bowed legs	+	+	+	−	19
Narrow thoracic cage	+	+	+	+	26
Pectus excavatum	+	+	+	−	12
Respiratory problems	+	+	−	+	20
Macrocephaly	+	+	+	+	15
Large anterior fontanelle	+	+	+	−	19
Large broad face	+	+	+	+	15
Hypertelorism	+	+	+	+	27
Wide anteverted nostrils	+	+	+	+	21
Long and wide philtrum	+	−	+	+	21
Midfacial hypoplasia	+	+	+	+	26
Short flat nose	+	+	+	+	28
Abnormal external ear	−	−	+	−	0
Short neck	+	+	+	+	12
Neck hyperextension	+	−	−	−	9
Peculiar hoarse voice	+	−	−	+	6
Delayed motor development	+	+	+	+	18
Hypotonia	+	+	+	+	13
Painful joints	+	−	−	−	0
Short and broad long bones	+	+	+	+	35
Short and broad round bones	+	+	+	+	35
Rib abnormalities	+	+	+	+	35
Costochondral calcifications	+	+	+	+	21
Epiphyseal and metaphyseal abnormalities	+	+	+	+	35
Platyspondyly	+	+	+	+	35
C1–C2 instability	+	−	+	−	19
Scoliosis	+	+	−	+	12
Falx cerebri calcifications	−	−	−	+	4
Foramen magnum stenosis	+	+	+	+	11
Triventricular hydrocephalus	+	−	−	−	0
Spinal cord compression	+	+	+	+	11
Otitis media	+	−	−	−	3
Optic atrophy-anisocoria	−	−	−	−	4
Hearing loss	+	−	−	−	2
Facial nerve palsy	−	−	−	+	1
Hypocalcemia during newborn period	−	+	−	−	0
Calcification of thyroid, hyoid, trachea, main bronchi	−	+	−	−	10
Dry scaly skin	+	−	−	−	0
Hypopigmented hair	+	−	+	−	0