Costello syndrome

Cardiovascular Worsening of hypertrophic cardiomyopathy has been reported in a child with Costello syndrome treated with growth hormone [15 ]. 

Kobayashi D, Cook AL, Williams DA. Progressively worsening hypertrophic cardiomyopathy in a child with newly diagnosed Costello syndrome while receiving growth hormone therapy. Cardiol Young 2010 20(4) 459-61. 

Fig. 19.3. Diagnostic flow-chart for patients with coarse Hurler-like face. Coffin-Lowry syndrome (MIM 303300) Coffin-Siris syndrome (MIM 135900) frontometaphyseal dysplasia (MIM 305620) Sotos syndrome (MIM 117550) Williams syndrome (MIM 194050) multiple neuroma syndrome (MIM 171400) pachydermoperiostosis (MIM 167100) acromegaloid facial appearance syndrome (MIM 102150) Costello syndrome (MIM 218040) Patterson David syndrome (MIM 169170) Schinzel-Giedeon syndrome (MIM 269150) Fountain syndrome (MIM 229120) Pallister-Killian syndrome (MIM 601803) Simpson-Golabi-Behmel syndrome (MIM 312870) congenital hypothyroidism. Sialic acid storage disease, a lysosomal transport defect (Chap. 20) should also be considered in the differential diagnosis...

A 13-year-old boy with Costello syndrome (neonatal macrosomia with subsequent slow growth, developmental delay, coarse facial dysmorphisms, gingival hyperplasia, skeletal anomalies, and hypertrophic cardiomyopathy) and chronic constipation developed signs and symptoms of acute renal insufficiency, after having received four phosphate-containing enemas (125 ml containing sodium... 

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