Table 2. [X-Linked Otopalatodigital Spectrum Disorders: Radiographic Features]. - GeneReviews®

Phenotype	Skull	Spine	Thorax	Long Bones	Hands/Feet	Pelvis
OPD1 (male phenotype)	Sclerosis of skull base; thickened calvarium; underdeveloped frontal sinuses; mastoids under-pneumatized	Failure of fusion of posterior vertebral arches (especially cervical)		Mild bowing; dislocation of radial heads	Thumb w/short, broad metacarpal; distal phalangeal hypoplasia; accessory proximal ossification center of 2nd metacarpal; accessory carpal bones; fusion of carpal & tarsal bones	Contracted; no iliac flaring
OPD2 (male phenotype)	Same as OPD1; large fontanelles	Same as OPD1; segmentation anomalies	Hypoplastic; thin ribs	Bowed; splayed metaphyses; absent fibulae	Broad, poorly modeled phalanges, metacarpals & metatarsals; ± duplicated terminal phalanges	Same as OPD1
FMD1 (male phenotype)	Same as OPD1; occasionally, craniosynostosis	Fusion of C2-3-4; deficiency of posterior vertebral arches	± coat-hanger shape ribs	Mild bowing; undertubulation	Carpal & tarsal fusions; later erosion of carpal bones; elongation, poor modeling of phalanges, metacarpals & metatarsals; distal phalangeal hypoplasia (thumbs & great toes)
MNS (female phenotype)	Same as OPD1	↑ vertebral body height, especially lumbar; scoliosis	Hypoplasia; ribs irregular; wavy clavicle w/expansion of proximal end	Bowed, sometimes ribbon-like; cortical irregularity	Elongation & undermodeling of phalanges, metacarpals & metatarsals	Supra-acetabular constriction; iliac flaring
TODPD (female phenotype)	Normal	Scoliosis	No abnormalities consistently described	Irregular ossification; cystic lesions near epiphyses; bowed; radial head dislocation	Hypoplasia, shortening, irregular ossification &/or fusions of carpals & metacarpals; irregular cortices	Narrow ilia; coxa vara

Phenotype

Skull

Spine

Thorax

Long Bones

Hands/Feet

Pelvis

OPD1
(male phenotype)

Sclerosis of skull base; thickened calvarium; underdeveloped frontal sinuses; mastoids under-pneumatized

Failure of fusion of posterior vertebral arches (especially cervical)

Mild bowing; dislocation of radial heads

Thumb w/short, broad metacarpal; distal phalangeal hypoplasia; accessory proximal ossification center of 2nd metacarpal; accessory carpal bones; fusion of carpal & tarsal bones

Contracted; no iliac flaring

OPD2
(male phenotype)

Same as OPD1; large fontanelles

Same as OPD1; segmentation anomalies

Hypoplastic; thin ribs

Bowed; splayed metaphyses; absent fibulae

Broad, poorly modeled phalanges, metacarpals & metatarsals; ± duplicated terminal phalanges

Same as OPD1

FMD1
(male phenotype)

Same as OPD1; occasionally, craniosynostosis

Fusion of C2-3-4; deficiency of posterior vertebral arches

± coat-hanger shape ribs

Mild bowing; undertubulation

Carpal & tarsal fusions; later erosion of carpal bones; elongation, poor modeling of phalanges, metacarpals & metatarsals; distal phalangeal hypoplasia (thumbs & great toes)

MNS
(female phenotype)

Same as OPD1

↑ vertebral body height, especially lumbar; scoliosis

Hypoplasia; ribs irregular; wavy clavicle w/expansion of proximal end

Bowed, sometimes ribbon-like; cortical irregularity

Elongation & undermodeling of phalanges, metacarpals & metatarsals

Supra-acetabular constriction; iliac flaring

TODPD
(female phenotype)

Normal

Scoliosis

No abnormalities consistently described

Irregular ossification; cystic lesions near epiphyses; bowed; radial head dislocation

Hypoplasia, shortening, irregular ossification &/or fusions of carpals & metacarpals; irregular cortices

Narrow ilia; coxa vara

From: X-Linked Otopalatodigital Spectrum Disorders

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Adam MP, Feldman J, Mirzaa GM, et al., editors.

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