Familial microhydranencephaly, a family that does not map to 16p13.13-p12.2: Relationship with hereditary fetal brain degeneration and fetal brain disruption sequence

Clinical Dysmorphology

Volumn 19, Issue 3, 2010, Pages 107-118

  Behunova, Jana ^a,d   Zavadilikova, Eva ^a   Bozoglu, Tarik M ^b   Gunduz, Aysegul ^c   Tolun, Aslihan ^b   Yalcinkaya, Cengiz ^c  

^a L PASTEUR UNIVERSITY HOSPITAL   (Slovakia)

^b BOGAZICI UNIVERSITY   (Turkey)

^c ISTANBUL UNIVERSITY   (Turkey)

^d P J AFÁRIK UNIVERSITY   (Slovakia)

Author keywords

16p13.13 p12.2; Fetal brain disruption sequence; Hereditary fetal brain degeneration; Linkage analysis; Microcephaly; Microhydranencephaly

Indexed keywords

ANTICONVULSIVE AGENT; THYROTROPIN;

ARTICLE; AUTOMUTILATION; BRAIN ATROPHY; BRAIN MALFORMATION; CASE REPORT; CHILD; CLINICAL FEATURE; DEVELOPMENTAL DISORDER; DISEASE COURSE; DISEASE DURATION; EPILEPSY; FAMILIAL DISEASE; FAMILY STUDY; FEMALE; GENE LOCUS; GENETIC LINKAGE; HAPLOTYPE; HEAD CIRCUMFERENCE; HEPATOMEGALY; HUMAN; HYDROCEPHALUS; MALE; MICROHYDRANENCEPHALY; MOTOR RETARDATION; MUSCLE ATROPHY; NUCLEAR MAGNETIC RESONANCE IMAGING; OPHTHALMOSCOPY; OPTIC NERVE ATROPHY; PACHYGYRIA; PHENOTYPE; PRIORITY JOURNAL; QUADRIPLEGIA; RETINA DYSTROPHY; SCHOOL CHILD; TENDON CONTRACTURE; THORAX DEFORMITY; THYROTROPIN BLOOD LEVEL; TREATMENT RESPONSE;

ADOLESCENT; ADULT; BRAIN; CHILD; CHILD, PRESCHOOL; CHROMOSOMES, HUMAN, PAIR 16; FAMILY; FEMALE; FETAL DISEASES; FETUS; GENETIC DISEASES, INBORN; HAPLOTYPES; HUMANS; INFANT; LOD SCORE; MAGNETIC RESONANCE IMAGING; MALE; MICROCEPHALY; NEURODEGENERATIVE DISEASES; PREGNANCY; SLOVAKIA; TURKEY;

EID: 77953535686     PISSN: 09628827     EISSN: None     Source Type: Journal    
DOI: 10.1097/MCD.0b013e32833946e9     Document Type: Article

References (22)

1. Alexander IE, Tauro GP, Bankier A (1995). Fetal brain disruption sequence in sisters. Europ J Pediat 154:654-657.
2. Bellini C, Massocco D, Serra G (2000). Prenatal cocaine exposure and the expanding spectrum of brain malformations. Arch Intern Med. 160:2393.
3. Bönnemann CG, Meinecke P (1990). Fetal brain disruption sequence: a milder variant. J Med Genet 27:273-274.
4. Corona-Rivera JR, Corona-Rivera E, Romero-Velarde E, Hernández- Rocha J, Bobadilla-Morales L, Corona-Rivera A (2001). Report and review of the fetal brain disruption sequence. Eur J Pediatr 160:664-667.
5. DeJonge M, Poulik J (1997). Pathological case of the month. Fetal brain disruption sequence. Arch Pediatr Adolesc Med 151:1267-1268.
6. Florell SR, Townsend JJ, Klatt EC, Pysher TJ, Coffin CM,Wittwer CT, et al. (1996). Aprosencephaly and cerebellar dysgenesis in sibs. Am J Med Genet 63:542-548.
7. Gabis L, Gelman-Kohan Z, Mogilner M (1997). Microcephaly due to fetal brain disruption sequence. Case report. J Perinat Med 25:213-215.
8. Gautam P, Phadke SR (2000). Fetal brain disruption sequence. Indian Pediatr 37:662-664.
9. Harris CP, Townsend JJ, Norman MG, White VA, Viskochil DH, Pysher TJ, et al. (1994). Atelencephalic aprosencephaly. J Child Neurol 9:412-416.
10. Iivanainen M, Haltia M, Lydecken K (1977). Atelencephaly. Dev Med Child Neurol 19:663-668.
11. Ippel PF, Breslau-Siderius EJ, Hack WW, van der Blij HF, Bouve S, Bijlsma JB (1998). Atelencephalic microcephaly: a case report and review of the literature. Eur J Pediatr 157:493-497.
12. Kavaslar GN, Onengü t S, Derman O, Kaya A, Tolun A (2000). The novel genetic disorder microhydranencephaly maps to chromosome 16p13.3-12.1. Am J Hum Genet 66:1705-1709.
13. Menkes JH, Sarnat HB, Bernard ML (2006). Child neurology. 7th edition. Philadelphia, USA: Lippincott Williams & Wilkins; s284-s346. ss. 1186.
14. Moore CA, Weaver DD, Bull MJ (1990). Fetal brain disruption sequence. J Pediatr 116:383-386.
15. Rasmussen SA, Frias JL (1990). Fetal brain disruption sequence: a brief case report. Dysmorph Clin Genet 4:53-56.
16. Russell LJ,Weaver DD, Bull MJ,Weinbaum M (1984). In utero brain destruction resulting in collapse of the fetal skull, microcephaly, scalp rugae, and neurologic impairment: the fetal brain disruption sequence. Am J Med Genet 17:509-521.
17. Schram A, Kroes HY, Sollie K, Timmer B, Barth P, van Essen T (2004). Hereditary fetal brain degeneration resembling fetal brain disruption sequence in two sibships. Am J Med Genet 127A:172-182.
18. Shewmon DA, Sherman MP, Danner R (1984). Atelencephalic microcephaly. Counseling severe cerebral dysmorphogenesis. Clin Pediatr (Phila). 23:649-651.
19. Siebert JR, Kokich VG, Warkany J, Lemire RJ (1987). Atelencephalic microcephaly: craniofacial anatomy and morphologic comparisons with holoprosencephaly and anencephaly. Teratology 36:279-285.
20. Smith DW, Gong BT (1973). Scalp hair patterning as a clue to early fetal brain development. J Pediatr 83:374-380.
21. Smith DW, Gong BT (1974). Scalp-hair patterning: its origin and significance relative to early brain and upper facial development. Teratology 9:17-34.
22. Villó N, Beceiro J, Cebrero M, de Frias EG (2001). Fetal brain disruption sequence in a newborn infant with a history of cordocentesis at 21 weeks gestation. Arch Dis Child Fetal Neonatal Ed 84:F63-F64.