Paediatric Upper Limb

Question 1

Ulnar Club Hand associated conditions

Answer 1

PFFD (proximal femoral focal deficiency)
Fibular deficiency
Scoliosis
Phocomelia
Hand abnormalities

Phoco = "seal" (greek)
Melos = "limb" (greek)
Phocomelia = very proximal limbs, like a seal.

Question 2

Radial Club Hand associated conditions

Answer 2

TAR (Thrombocytopenia Absent Radius)
Fanconi's Anaemia
Holt-Oram Syndrome
VACTERL
VATER

TAR (Thumb usually present, Autosomal recessive)
Fanconi’s (Chromosomal breakage test, will die without Bone marrow transplant)
Holt-Oram (Cardiac defects)
VACTERL (V anomalies, A atresia, T fistula, E atresia, R agenesis, L defects)

Question 3

Thumb Hypoplasia associated conditions

Answer 3

VACTERL
Holt-Oram
Fanconi’s anaemia

TAR also possible, but classically thumb is present in TAR

Question 4

Thumb Duplication (Preaxial polydactyly) associated conditions

Answer 4

Pollex Abductus
Holt-Oram
Fanconi's anaemia
Blackfan-Diamond anaemia
Imperforate anus
Cleft palate
Tibial defects

Pollex abductus = an abnormal connection between FPL and EPL tendons
Blackfan-Diamond anaemia (primarily red cell anaemia, associated conditions - cardiac, facial, urogenital)