Orthopedic problems are common in neonates. The problems can be isolated deformities or as part of a generalized disorder. Usually these deformities are obvious, but a comprehensive musculoskeletal examination is the key for diagnosis of associated generalized disorders. This chapter provides an overview of the common problems encountered in the neonatal intensive care unit.
Upper limb and hand anomalies
Definition. Polydactyly is duplication of one or more fingers. It is most common among African Americans. It may be associated with Ellis-van Creveld syndrome or chromosomal anomalies.
Ulnar polydactyly, postaxial type. It may affect the little finger. It has an autosomal dominant inheritance with variable penetration.
Central polydactyly. It affects the central three fingers (central polydactyly). It typically has autosomal dominant inheritance.
Thumb polydactyly, preaxial type. It affects the thumb.
Treatment. Surgical reconstruction is often indicated.
Radial club hand
Definition. Radial club hand is a longitudinal partial or complete deficiency of the radius. The typical deformity is radial deviation of the wrist and hand with or without thumb hypoplasia. The ulna is usually short and deformed. It may be associated with thrombocytopenia (TAR [thrombocytopenia with absent radius] syndrome), Holt-Oram syndrome, Fanconi anemia, Nager syndrome, VACTERAL (vertebral, anal, cardiac, tracheal, esophageal, renal dysplasia, limb deformities) syndrome, and other skeletal and cardiac abnormalities.
Below-elbow amputation (congenital amputation)
Definition. Below-elbow amputation is a transverse deficiency resulting in the complete absence of the forearm just below the elbow. It is the most common form of congenital amputation (1 of 20,000 newborns has a transverse forearm deficiency). The hand or its remnants can be attached to the proximal forearm. Commonly, it is unilateral with no genetic basis or known cause.
Treatment. There is no treatment required, although prosthesis fitting may be useful.
Definition. Macrodactyly is an abnormal enlargement of the digits due to an osseous and/or soft tissue enlargement. Generalized enlargement may be due to a complex vascular malformation or neurofibromatosis. Klippel-Trenaunay-Weber syndrome (triad of port-wine stain, varicose veins, and bony and soft tissue hypertrophy involving an extremity) or Proteus syndrome are rare syndromes associated with macrodactyly. There are two varieties of macrodactyly, one presents as a large digit at birth, which grows at a normal growth rate, and in the other, the digit is normal at birth and then grows at a faster rate subsequently.
Treatment. Surgical reconstruction is usually indicated.
Definition. Syndactyly is a congenital webbing between the fingers. The fusion may be complete if it extends to the fingertips or complex if it involves the bony elements of the adjacent digits. It may be an isolated anomaly or associated with chromosomal or genetic disorders (eg, trisomy 21,13,18, Silver syndrome, Prader-Willi syndrome, or focal dermal hypoplasia). It is more common in boys, often with bilateral involvement. Also it is more common in the ring and middle finger than the index and thumb.
Treatment. Surgical reconstruction is often indicated in the first year ...
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