Multiple capillary skin malformations, epilepsy, microcephaly, mental retardation, hypoplasia of the distal phalanges: Report of a new case and further delineation of a new syndrome

American Journal of Medical Genetics, Part A

Volumn 155, Issue 6, 2011, Pages 1458-1460

  Isidor, Bertrand ^a   Barbarot, Sébastien ^a   Bénéteau, Claire ^a   Le Caignec, Cédric ^a,b,c,d   David, Albert ^a  

^a NANTES UNIVERSITY HOSPITAL   (France)

^b L INSTITUT DU THORAX   (France)

^c CNRS   (France)

^d UNIVERSITÉ DE NANTES   (France)

Author keywords

[No Author keywords available]

Indexed keywords

CLONAZEPAM; DIAZEPAM; PHENOBARBITAL; PHENYTOIN; VALPROIC ACID;

CASE REPORT; CHILD; CLINODACTYLY; DISTAL PHALANX; EPILEPSY; EPILEPTIC STATE; FEBRILE CONVULSION; FEMALE; HUMAN; HYPERTELORISM; INFANT; LETTER; MENTAL DEFICIENCY; MICROCEPHALY; NAIL HYPOPLASIA; NEWBORN; PACHYONYCHIA; PHALANX HYPOPLASIA; PHENOTYPE; PRESCHOOL CHILD; PRIORITY JOURNAL; SKIN CAPILLARY; SKIN MALFORMATION;

ABNORMALITIES, MULTIPLE; CAPILLARIES; CHILD, PRESCHOOL; EPILEPSY; FEMALE; HUMANS; MENTAL RETARDATION; MICROCEPHALY; SKIN; SYNDROME;

EID: 79956200584     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.34048     Document Type: Letter

References (3)

1. Carter MT, Geraghty MT, De La Cruz L, Reichard RR, Boccuto L, Schwartz CE, Clericuzio CL. 2001. A new syndrome with multiple capillary malformations, intractable seizures, and brain and limb anomalies. Am J Med Genet Part A 155A:301-306.
2. Leech SN, Taylor AE, Ramesh V, Birchall D, Ann Lynch S. 2004. Widespread capillary malformation associated with global developmental delay megalencephaly. Clin Dysmorphol 13:169-172.
3. Upton CJ, Young ID. 1993. Severe developmental delay and multiple strawberry naevi: A new syndrome? J Med Genet 30:883-884.