From variome to phenome: Pathogenesis, diagnosis and management of ectopic mineralization disorders

Table 5 Differential diagnosis of Keutel syndrome[98,110-112]

Disease	Distinct differences with Keutel Syndrome
X-linked chondrodysplasia punctata (XL; ARSE gene)	Ichtyosis Cataracts Microcephaly, intellectual disability ASD, VSD, PDA Failure to thrive in infancy Age at diagnosis: usually infancy
Warfarin embryopathy	Pectus carinatum Congenital heart defects different from those seen in Keutel syndrome (ASD, PDA, ventriculomegaly)
Combined Vitamin K-dependent coagulation factor deficiency	Easy bruising, mucocutaneous bleeding Osteoporosis with normal serum markers
Relapsing polychondritis	Age at diagnosis: 40-60 yr Cartilage inflammation, possibly progressing to destruction Aortic or mitral valvular disease Facies: saddle nose deformity, multifocal, tender chondritis, including variably floppy or calcified auricles Cranial neuropathies, hemiplegia

ARSE: Arylsulfatase E; ASD: Atrial septal defect; PDA: Patent ductus arteriosus; VSD: Ventricular septal defect; XL: X-linked.