146 related articles for article (PubMed ID: 14994248)
1. Aplasia cutis congenita, polythelia, microcephaly, and developmental delay: a unique expression of polytopic field defect involving possible 'paradominant' inheritance?
Urbani CE
Am J Med Genet A; 2004 Mar; 125A(3):327-8. PubMed ID: 14994248
[No Abstract] [Full Text] [Related]
2. Scalp defects, polythelia, microcephaly, and developmental delay: a new syndrome with apparent autosomal dominant inheritance.
Marble M; Pridjian G
Am J Med Genet; 2002 Apr; 108(4):327-32. PubMed ID: 11920840
[TBL] [Abstract][Full Text] [Related]
3. Aplasia cutis congenita associated with syndactyly and supernumerary nipples: report of a second family with similar clinical findings.
Halper S; Rubenstein D
Pediatr Dermatol; 1991 Mar; 8(1):32-4. PubMed ID: 1650463
[TBL] [Abstract][Full Text] [Related]
4. Aplasia cutis congenita of the scalp, skull and dura associated with Adams-Oliver syndrome.
Bilginer B; Onal MB; Bahadir S; Akalan N
Turk Neurosurg; 2008 Apr; 18(2):191-3. PubMed ID: 18597236
[TBL] [Abstract][Full Text] [Related]
5. Multifocal aplasia cutis congenita, distal limb hemimelia, and cutis marmorata telangiectatica in a patient with Adams-Oliver syndrome.
Bork K; Pfeifle J
Br J Dermatol; 1992 Aug; 127(2):160-3. PubMed ID: 1390145
[No Abstract] [Full Text] [Related]
6. Prenatal and postnatal growth retardation, microcephaly, developmental delay, and pigmentation abnormalities: Naegeli syndrome, dyskeratosis congenita, poikiloderma Clericuzio type, or separate entity?
Belligni EF; Dokal I; Hennekam RC
Eur J Med Genet; 2011; 54(3):231-5. PubMed ID: 21252004
[TBL] [Abstract][Full Text] [Related]
7. Scalp-ear-nipple syndrome: additional manifestations.
Edwards MJ; McDonald D; Moore P; Rae J
Am J Med Genet; 1994 Apr; 50(3):247-50. PubMed ID: 8042668
[TBL] [Abstract][Full Text] [Related]
8. Systemic aplasia cutis congenita: A case report and review of the literature.
Zhou J; Zheng L; Tao W
Pathol Res Pract; 2010 Jul; 206(7):504-7. PubMed ID: 20188489
[TBL] [Abstract][Full Text] [Related]
9. A newly recognized syndrome of cutis aplasia, lipomatous footpads, microcephaly, hypotelorism, and, variably, single maxillary central incisor, and holoprosencephaly.
Basel D; Sklar D; Viljoen D
Am J Med Genet A; 2005 Aug; 136A(4):354-6. PubMed ID: 15971262
[No Abstract] [Full Text] [Related]
10. The syndrome of aplasia cutis congenita with terminal, transverse defects of limbs.
Scribanu N; Temtamy SA
J Pediatr; 1975 Jul; 87(1):79-82. PubMed ID: 1173820
[No Abstract] [Full Text] [Related]
11. Siblings with Bohring-Opitz syndrome.
Greenhalgh KL; Newbury-Ecob RA; Lunt PW; Dolling CL; Hargreaves H; Smithson SF
Clin Dysmorphol; 2003 Jan; 12(1):15-9. PubMed ID: 12514360
[TBL] [Abstract][Full Text] [Related]
12. [Large scalp and skull defect in patient with aplasia cutis congenita].
Henriques JG; Pianetti Filho G; Giannetti AV; Henriques KS
Arq Neuropsiquiatr; 2004 Dec; 62(4):1108-11. PubMed ID: 15608980
[TBL] [Abstract][Full Text] [Related]
13. Brachycephaly, cutis aplasia congenita, blue sclerae, hypertelorism, polydactyly, hypoplastic nipples, failure to thrive, and developmental delay: a distinct autosomal recessive syndrome?
Teebi AS; Druker HA
Clin Dysmorphol; 2001 Jan; 10(1):69-70. PubMed ID: 11152154
[TBL] [Abstract][Full Text] [Related]
14. A case of Adams-Oliver syndrome associated with acrania, microcephaly, hemiplegia, epilepsy, and mental retardation.
Caksen H; Kurtoğlu S
Acta Neurol Belg; 2000 Dec; 100(4):252-5. PubMed ID: 11233683
[TBL] [Abstract][Full Text] [Related]
15. Mutations in KCTD1 cause scalp-ear-nipple syndrome.
Marneros AG; Beck AE; Turner EH; McMillin MJ; Edwards MJ; Field M; de Macena Sobreira NL; Perez AB; Fortes JA; Lampe AK; Giovannucci Uzielli ML; Gordon CT; Plessis G; Le Merrer M; Amiel J; Reichenberger E; Shively KM; Cerrato F; Labow BI; Tabor HK; Smith JD; Shendure J; Nickerson DA; Bamshad MJ;
Am J Hum Genet; 2013 Apr; 92(4):621-6. PubMed ID: 23541344
[TBL] [Abstract][Full Text] [Related]
16. Extensive form of aplasia cutis congenita: a new syndrome?
Park MS; Hahn SH; Hong CH; Kim JS; Kim HS
J Med Genet; 1998 Jul; 35(7):609-11. PubMed ID: 9678709
[TBL] [Abstract][Full Text] [Related]
17. Autosomal dominant inheritance of aplasia cutis congenita and congenital heart defect: a possible link to the Adams-Oliver syndrome.
Digilio MC; Marino B; Dallapiccola B
Am J Med Genet A; 2008 Nov; 146A(21):2842-4. PubMed ID: 18924173
[No Abstract] [Full Text] [Related]
18. Aplasia cutis congenita, skull defect, brain heterotopia, and intestinal lymphangiectasia.
Bonioli E; Hennekam RC; Spena G; Morcaldi G; Di Stefano A; Serra G; Bellini C
Am J Med Genet A; 2005 Jan; 132A(2):202-5. PubMed ID: 15578573
[TBL] [Abstract][Full Text] [Related]
19. [Circumscribed aplasia cutis congenita of the scalp in a Rwandan child: about an observation].
Ntumba-Tshitenge O; Kaputu-Kalala-Malu C; Mukampunga C; Mukendi KM
Pan Afr Med J; 2014; 19():226. PubMed ID: 25838854
[TBL] [Abstract][Full Text] [Related]
20. Aplasia cutis congenita, congenital heart lesions, and frontonasal cysts in four successive generations.
Rodrigues RG
Clin Genet; 2007 Jun; 71(6):558-60. PubMed ID: 17539905
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]