Recurrent c.G1636A (p.G546S) mutation of COL2A1 in a Chinese family with skeletal dysplasia and different metaphyseal changes: a case report

Table 2 Phenotypic comparison of the six patients with “dappling” and “corner fracture” metaphyseal abnormalities

	Patient 1 [Kaitila and others 1996] [9]	Patient 2 [Kaitila and others 1996] [9]	Patient 3 [Walter and others 2007] [12]	Patient 4 [Walter and others 2007] [12]	Patient 5 [Matsubayashi and others 2013] [10]	Patient 6 [Our study]	SEMD- Strudwick type
Mutation Gender Nationality Physical examination	Gly154Arg male Finnish	Gly154Arg female unknown	Gly181Arg female unknown	Gly922Arg female unknown	Gly861Val male Japanese	Gly546Ser female Chinese
Disproportional short stature	+	+	+	+	+	+	+
Spinal deformity
Scoliosis	−	−	+	−	−	−	+
Kyphosis	+	−			−	−	+
Lumbar lordosis	+	+	+	−	+	−	+
Chest deformity
Pectus excavatum	+	−	−	−	unknown	+	−
Pectus carinatum	−	−	+	+	unknown	+	+
Limbs
Short	+	+	+	+	+	+	+
Genu varum/valgum	+	+	+	+	+	+	+
Normal mentation	+	+	+	+	+	+	+
Inguinal hernia	−	−	unknown	unknown	unknown	−	+
Cleft palate	−	−	−	−	−	−	−
Myopia	−	+	−	−	+	−	+
Retinal detachment	−	−	unknown	unknown	unknown	−	+
Hearing loss	−	+	−	−	+	−	−
Radiographic findings
Platyspondyly	+	+	+	+	+	+	+
Odontoid hypoplasia	+	+	−	+	unknown	−	+
Flaring and irregularities of metaphyses	+	+	+	+	+	+	+
“Corner fracture” appearance of metaphyses	+	+	+	+	+	+	−
“Dappling” appearance of metaphyses	+	+	+	+	+	+	+
Epiphyseal dysplasia	+	+	+	+	+	+	+
Shortened long bones	+	+	+	+	+	+	+
Normal small tubular bones	+	+	+	+	+	+	+
Dysplasia of femoral heads and necks	+	+	+	+	+	+	+
Hip dysplasia	+	+	+	+	+	+	+
Autosomal dominant	+	+	+	+	+	+	+

ISSN: 1471-2431