CHILD syndrome

Fig. 5.1.2 Cholesterol biosynthesis branch of the isoprenoid biosynthetic pathway. Enzymes are numbered as follows 1 squalene synthase 2 squalene epoxidase 3 2,3-oxidosqua-lene sterol cyclase 4 sterol A24-reductase (desmosterolosis) 5 sterol C-14 demethylase 6 sterol A14-reductase (hydrops-ectopic calcification-moth-eaten, HEM, dysplasia) 7 sterol C-4 demethylase complex (including a 3/ -hydroxysteroid dehydrogenase defective in congenital hemidyspla-sia with ichthyosiform nevus and limb defects, CHILD, syndrome) 8 sterol A8-A7 isomerase (Conradi-Hunermann syndrome CDPX2) 9 sterol A5-desaturase (lathosterolosis) 10 sterol A7-reductase (Smith-Lemli-Opitz syndrome). Enzyme deficiencies are indicated by solid bars across the arrows...

Syndrome Mevalonate kinase deficiency (MA/HIDS) CHILD syndrome CDPX2 HEM skeletal dysplasia Lathosterolosis Desmosterolosis Smith-Lemli-Opitz syndrome... 

As an alternative, primary skin fibroblasts or lymphoblasts of patients suspected to be affected with a cholesterol biosynthesis defect can be cultured for 3-7 days in medium supplemented with fetal calf serum depleted of lipoproteins to induce cholesterol biosynthesis, whereupon the specific defect can be determined by sterol analysis using GC-MS as described above. This procedure will readily identify patients affected with Smith-Lemli-Opitz syndrome, desmosterolosis, lathosterolosis, hydrops-ectopic calcification-motheaten (HEM) skeletal dysplasia and most patients with Conradi-Hunermann syndrome (CDPX2). Patients with congenital hemidys-plasia with ichthyosiform nevus and limb defects (CHILD) syndrome may not be identified with this assay, but they can be readily diagnosed on the basis of their typical clinical presentation. 

Congenital hemidysplasia with ichthyosis and limb defects (CHILD syndrome) Sterol A8,A7-isomerase, sterol C-4 demethylase... 

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Feldman KW, Brewer DF (1984) Child abuse, cardiopulmonary resuscitation and rib fractures. Pediatrics 73 339-342 Galleno H, Oppenheim WL (1982) The battered child syndrome revisited. Clin Orthop 162 11-19 Graif M, Stahl-Kent V, Ben-Ami T et al (1988) Sonographic detection of occult bone fractures. Pediatr Radiol 18 383-385 Haase GM, Ortz VN, Stakianakis GN et al (1980) The value of radionuclide bone scanning in the early recognition of deliberate child abuse. J Trauma 20 873-875 Herndon WA (1983) Child abuse in a military population. J Pediatr Orthop 3 73-76... 

John N, Maguire S, Mann M K et al (2005) Does cardiopulmonary resuscitation cause rib fractures in children A systematic review. Arch Dis Child 90 [Suppl 11] A41-A43 Johnson K, Chapman S, Hall CM (2004) Skeletal injuries associated with sexual abuse. Pediatr Radiol 34 620-623 Kemp AM, Butler A, Morris S et al (2006) Which radiological investigations should be performed to identify fractures in suspected child abuse Clin Radiol 61 723-736 Kempe CH, Silverman FN, Steele BF et al (1962) The battered child syndrome. JAMA 181 17-24 King J, Diefendorf D, Apthorp J et al (1988) Analysis of 429 fractures in 189 battered children. J Pediatr Orthop 8 585-589... 

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Both nutritional and metabolic effects play a role, although not all interrelations are well understood at present. There are even patients with low cholesterol levels in whom no underlying cause has been found yet. All patients with hypocholesterolemia should be screened for biosynthesis defects as there have been a number of other conditions identified affecting the biosynthetic pathway [15]. These defects comprise the Conradi-Hiinermann syndrome (sterol isomerase), CHILD syndrome (sterol C-4 demethy-lase), desmosterolosis (sterol 5 -reductase), Greenberg skeletal dysplasia (sterol (5 -reductase), and sitosterolemia. 

Characteristic clinical CHILD syndrome (Congenital //emidysplasia with + +... 

Grange DK, Kratz LE, Braverman NE, Kelley RI. CHILD syndrome caused by deficiency of 3beta-hydroxysteroid-delta8, delta7-isomerase [letter] [see comments]. Am J Med Genet 2000 90(4) 328. 

Happle R, Koch H, Lenz W. The CHILD syndrome. Congenital hemidysplasia with ichthyosiform erythroderma and limb defects. Eur J Pediatr 1980 134(1) 27. 

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