Table 1

Clinical profile of autosomal recessive acromesomelic dysplasias (AMD) and comparison with the mild AMD Maroteaux type variant

Grebe type Hunter-Thompson type Maroteaux type, classical Maroteaux type, mild
Clinical featuresAdult size100 cm100–130 cm120 cm? (−2.5 to −3 SD at age 4)
Long bonesSeverely shortened and deformedShortening progression proximal to distal, large joint dislocationsShortening of middle and distal segmentsShortening of middle and distal segments
Hands and feetBall shaped fingers, occasional polydactyly, possibly absent jointsSeverely affectedShort and broad fingers without fusionsShort and broad fingers
Normal distal phalanges
Radiological featuresLong bonesShort femoral neck, absent tibial and fibular diaphyses, hypoplasia of the ulna, malformed radial headBowing of the radius, hypoplastic femoral condylesUlna shorter than radius, bowing of the radiusUlna shorter than radius
Hands and feetFusion of carpal and tarsal bones, absence of several metacarpal and metatarsal bones, absence of proximal and middle phalangesSingle phalangeal bone on digit 5, abnormally shaped carpal bonesShort and broad phalanges, metacarpal and metatarsal bonesShort and broad phalanges, metacarpal and metatarsal bones
Vertebral abnormalitiesAbsentAbsentPresentMinor
Molecular findingsMapping20q11.220q11.29p13-q12Unknown
MutationsHomozygous missense mutation inCDMP-1 (G1199A) Brachydactyly in heterozygotesHomozygous 22 bp tandem duplication, frameshift mutation in the mature region ofCDMP-1