Radial Polydactyly
Type 1: A bifid distal phalanx with a common epiphysis that articulates with a normal proximal phalanx There may be one common nail, but usually there are two distinct nails…
Radial Longitudinal Deficiency: Thumb Hypoplasia
Frequent in: Aase S. Baller-Gerold S. Congenital microgastria-limb reduction complex Deletion 13q S. Fanconi pancytopenia S. Holt-Oram S. Levy-Hollister S. Nager S. Oculo-auriculo-verterbral spectrum Radial aplasia-thrombocytopenia S. Roberts-SC phocomelia Rothmund-Thomson…
Syndactyly
Syndactyly (MIM) [64] Sub-groups Gene Loci Phenotype SD1/Zygodactyly – 2q34-q36 Syndactyly of the third + fourth finger web space and/or the web between the second and third toes (MIM 185900) Zygodactyly 1…
Epidermolysis Bullosa
Fig. 25.1 Example of pseudosyndactyly History EB was first described by Austrian dermatologist Von Hebra in 1870 [4]. In 1879, Tilbury Fox, a British dermatologist, described the inheritance of EB…
Symbrachydactyly
Fig. 11.1 (a–c) Dorsal and palmar photographs and radiograph of an “atypical” cleft hand, now classified as a central absence or oligodactylic type II symbrachydactyly, affecting the left hand of…
Arthrogryposis
Fig. 23.1 Classification of types of arthrogryposis [1] Table 23.1 Types of arthrogryposis as classified by Halla 1. Limb only (a) Classic arthrogryposis (Amyoplasia) (b) Distal arthrogryposis (10 types) 2….
Macrodactyly
Fig. 21.1 Enlargement of the fingers or hand secondary to vascular malformations: (a) A lymphatic malformation of the tip of the middle finger. (b) An arteriovenous malformation of a finger…
Central Deficiency (Cleft Hand)
Fig. 15.1 Typical cleft hand (left) and atypical cleft hand (right) Incidence and Genetics Birch-Jensen [5] estimated the ratio of occurrence of typical cleft hand as 1 in 90,000 births….
Embryology and Classification of Congenital Upper Limb Anomalies
Fig. 1.1 Human embryo at stage of limb initiation and presumed Hox positioning. (a) Depiction of an emerging upper limb bud (boxed) in Carnegie stage 12 embryo. (b) Hox genes…
Amniotic Band Syndrome
Fig. 22.1 Constriction bands involving the upper and lower extremities. The hand deformity shows constriction bands, lymphedema, acrosyndactyly, and digital amputations Fig. 22.2 An X-ray demonstrating transverse arrest of development…
