|
Author/year | Inheritance | Sex | Craniofacial anomalies | Limb/digital anomalies | Outcome | Mutation |
|
Benacerraf et al./2000 [21] | de novo mutation | M | Severe acrocephalic skull, fused sutures, flat facies, frontal bossing | Syndactyly of digits of both hands and feet, wide hallux | Still born | Mutation from G to T at codon 314 leading to alanine to serine amino acid substitution in axon 9 of the gene |
Blaumeiser et al./2004 [22] | de novo mutation | M | Cloverleaf skull, flattening of the midface, flat and broad nasal bridge, bilateral ocular proptosis, short neck | Prominent thumbs and great toes, micropenis | Stillborn | 1019A > G (Y340 C) |
Gomez et al./2013 [23] | Heterozygosity | N/A | Cloverleaf cranium, severe proptosis | No observed hand and foot deformities | Pregnancy terminated | c.870 >T p.Trp 290Cys. Presumed de novo |
Ohishi et al./2016 (case 5) [16] | Sporadic-de novo | M | Cloverleaf, exophthalmos choanal atresia | Humeroradial synostosis, broad 1st toes | Developmental delay | c.870 G > T p.Trp290Cys |
Ohishi et al./2016 (case 6) [16] | Sporadic-de novo | M | Brachycephaly, cloverleaf, exophthalmos, high arched palate | Radioulnar fusion, radially deviated thumbs, broad 1st toes | Developmental delay | c.870 G > T p.Trp290Cys |
Ohishi et al./2016 (case 7) [16] | Sporadic-de novo | M | Brachycephaly, cloverleaf,low-set ears, exophthalmos, saddle nose | Humeroradial synostosis, broad 1st toes | Developmental delay | c.870 G > T p.Trp290Cys |
Ohishi et al./2016 (case 8) [16] | Sporadic-de novo | F | Cloverleaf, exophthalmos | Humeroradial synostosis, broad first toes, syndactyly of 1st and 2nd toes | Developmental delay | c.1019 A > G p.Trp340Cys |
Giancotti et al./2017 [5] | de novo mutation. | N/A | Cloverleaf, dolichocephaly, frontal bossing, depressed nasal bridge, proptosis, severe hypertelorism, upper jaw hypoplasia | Short humerus, 5th finger clinodactyly, many superimposed phalanges. In lower limbs, shorter bones than normal, curved right tibia, clubfeet | Stillborn | c.870G4T(p.Trp290Cys) mutation in exon 7 |
Torres-canchala et al./2020 [11] | Sporadic-de novo | F | Cloverleaf-shaped skull, facial hypoplasia, low ears, exophthalmos | Wide, broad, and deviated thumbs and hallux. | Psychomotor retardation, sleep apnea | c.940–1G > C |
|