What is the syndrome that this child with cholestatic jaundice and an ejection systolic murmur, on auscultation, in the pulmonary area, is suffering from?
Crouzon Syndrome | Brachycephaly (d/t premature fusion of coronal suture) Bulging eyes, mid-face hypoplasia Prognathism (protruding jaw) Williams syndrome is caused by hemizygous microdeletion on chromosome 7q11.23; It is characterized by cardiovascular, intellectual disability, unique personality, growth and endocrine abnormalities like hypercalcemia and hypothyroidism. Characteristic facial features include thick lower lip, bulbous nasal tip, periorbital fullness and long philtrum.Clinical diagnostic criteria are available for Williams syndrome; But the definitive diagnosis requires demonstration of the gene microdeletion. Alagille syndrome - Triangular facies - (Also seen in Russell Silver syndrome) - Butterfly veebra - Pulmonary Stenosis - Cholestatic Jaundice Smith Lemli Opitz syndrome Mutations in DHCR7 gene (chr 11) | Deficiency of microsomal enzyme 7-dehydro cholesterol-D7 reductase (DHCR7) | Low plasma cholesterol and accumulation of precursors (7-dehydrocholesterol) | Multiple congenital anomalies and developmental delay Clinical features of Smith-Lemli-Opitz syndrome: Craniofacial: Microcephaly, Retromicrognathia, Midline cleft palate Skeletal Anomalies: Syndactyly of toes II/III, Postaxial polydactyly Genital Anomalies: Ambiguous genitalia, Hypospadias, Cryptorchidism Development: Growth retardation, Feeding problems, Mental impairment CNS: Holoprosencephaly, Corpus callosal Agenesis, Cerebellar hypoplasia CVS: Atrioventricular canal defect, Patent ductus aeriosus, VSD Urinary Tract: Renal hypoplasia, Hydronephrosis, Ureteral duplication GI: Hirschsprung disease, Pyloric stenosis, progressive liver disease Pulmonary: Pulmonary hypoplasia
Crouzon syndrome
William syndrome
Smith Lemli Opitz syndrome
Alagille syndrome
Paediatrics