6533b856fe1ef96bd12b31f2

RESEARCH PRODUCT

Infant developmental profile of Crisponi syndrome due to compound heterozygosity for CRLF1 deletion.

Ettore PiroIvana PersicoVincenzo AntonaIngrid Anne Mandy SchierzGiovanni CorselloGregorio Serra

subject

MalePathologymedicine.medical_specialtyCrisponi syndromeCompound heterozygosityPathology and Forensic MedicineCamptodactylyDeath SuddenPeriodic feverMedicineHumansHyperhidrosisReceptors CytokineGenetics (clinical)Sequence DeletionDevelopmental profiledevelopmental delay thin corpus callosum clinical profilebusiness.industryInfant NewbornFaciesInfantCold-induced sweating syndromeGeneral MedicineThin corpus callosumPediatrics Perinatology and Child HealthTrismusAnatomymedicine.symptomDevelopmental DelayCold-induced sweating syndrome CamptodactylyThin corpus callosum Periodic feverbusinessHand Deformities Congenital

description

Crisponi syndrome/CISS1, is an autosomal recessive ciliary neurotrophic factor receptor (CNTFR)-related genodermatosis caused in 95% of cases by mutations in CRLF1 on chromosome 19p13. The CNTFR pathway is important for CNS development. Crisponi syndrome/ CISS1 can be suspected in the presence of the following clinical triad: camptodactyly with fisted hands, intermittent hyperthermia and muscular contractions with feeding difficulties.

yearjournalcountryeditionlanguage
2020-01-01Clinical dysmorphology
10.1097/mcd.0000000000000325https://pubmed.ncbi.nlm.nih.gov/32433043