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. 2021 Dec 10;2021(1):353-360. doi: 10.1182/hematology.2021000314

Table 4.

Malformations identified in DBA from Willig et al5

Craniofacial Hypertelorism
Broad, flat nasal bridge
Cleft palate
High arched palate
Microcephaly
Micrognathia
Microtia
Low-set ears
Low hairline
Epicanthus
Ptosis
Ophthalmologic Congenital glaucoma
Strabismus
Congenital cataract
Neck Short neck
Webbed neck
Sprengel deformity
Klippel-Feil deformity
Thumbs Triphalangeal
Duplex or bifid
Hypoplastic
Flat thenar eminence
Absent radial artery
Urogenital Absent kidney
Horseshoe kidney
Hypospadias
Cardiac Ventricular septal defect
Atrial septal defect
Coarctation of the aorta
Complex cardiac anomalies
Other musculoskeletal Growth retardation
Syndactyly
Neuromotor Learning difficulties