MCQs-congenital 2
the “candle-dripping” appearance.

– metachromatic granules are found in lymphocytes and aid in the diagnosis of Hurler’s syndrome (and other mucopolysaccharidosis)

– homocystinuria is most likely confused with Marfan’s syndrome. Patients are tall, with long limbs, and may show arachnodactyly and scoliosis.

– defective collagen cross-linking is most likely seen in osteogenesis imperfecta ??? homocystinuria? Marfans?

– Sprengels deformity is associated with normal bone, cardiovascular abnormalities, Klippel Feil, and metatarsus adductus – it is not been shown to be associated with DDH

– Duchennes will have an elevated CPK in cord blood.

– Caffey’s disease (infantile cortical hyperostosis) is found most prominently during the first 6 months. It usually begins earlier than 9 weeks of age. It is characterized by a febril illness with hyperirritability, swelling of soft tissues, and cortical thickening of bone.

– Larsen’s syndrome is seen with multiple congenital dislocations, clubfoot, congenital heart isease

– in achondroplasia, the iliac crest histology is normal – the iliac crest growth is appositional, not endochondral. The area of pathology is in the hypertrophic and proliferative zones, which includes the provisional zone of calcification. Miller feels that the area of pathology is mainly in the proliferative zone, which does not include the zone of provisional calcification. There is narrowing of the foramen magnum and kyphosis which tends to improve once walking.

– in ochronosis, there is an increase in urine homogenistic acid. They get big radiodense livers, chondrocalcinosis, and diffuse arthritis. Ochronosis is a rare hereditary disorder of tyrosine and phenylalanine degradation resulting from the absence of homogentisic acid oxidase – leads to the accumulation of homogentisic acid in urine – causes urine to turn black when exposed to air.

– vitamin D resistant rickets is an x-linked dominant disorder.

– in radial clubhand, type 4 is most common (complete absence); bilaterality is more common that unilateral.

– in congenital absence of the radius (type 4 radial clubhand), they should be splinted initially (like a clubfoot) then undergo centralization of the hand at 6-12 months.

– the structure most at risk in the radial clubhand surgery is the median nerve. It is often just below the fascia, and bowstrung across the radial bow.

– a totally absent radius with corresponding fingers is a complete terminal paraxial radial hemimelia.

– congenital absence of the fibula is associated with anteromedial bowing of the tibia. The foot is laterally displaced relative to the tibia and there is ankle and hindfoot valgus that may be mild or severe. There is usually some degree of hindfoot equinus.

– in congenital patellar dislocation, the patellar dislocation is irreducible at birth. Flexion contracture, genu valgum, and external tibial torsion are present. Surgical correction includes a complete lateral quadriceps release, iliotibial band release, medial stabilization of the quads, and patellar tendon centralization.

– few things are transmitted x-linked dominant – vitamin D resistant rickets (hypophosphatemic rickets) is one

– osteogenesis imperfecta is associated with abnormal dentition, deafness, normal urinary hydroxyproline levels, and abnormal synthesis of collagen – this probably affects their ability to crosslink.

– in the patient with bilateral radioulnar synostosis with fixed pronation in both, it may be helpful to osteotomize the nondominant hand and put it into supination.

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