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3. New syndrome: mother and son with hypertelorism, downslanting palpebral fissures, malar hypoplasia, and apparently low-set ears associated with joint and scrotal anomalies. Seaver LH; Cassidy SB Am J Med Genet; 1991 Dec; 41(4):405-9. PubMed ID: 1776627 [TBL] [Abstract][Full Text] [Related]
4. Oto-palato-digital syndrome in an Iranian infant. Farhud DD; Walizadeh GR; Farhud I Monatsschr Kinderheilkd; 1989 Oct; 137(10):681-3. PubMed ID: 2555708 [TBL] [Abstract][Full Text] [Related]
5. [Familial occurrence of Elfin's face (Williams-Beurens Syndrome =wbs) and supravalvular aortic stenosis (= svas) (author's transl)]. Hammerer I; Gassner I; Müller W Klin Padiatr; 1979 May; 191(3):287-92. PubMed ID: 572446 [TBL] [Abstract][Full Text] [Related]
6. New syndrome of macrocephaly, hypertelorism, short limbs, hearing loss, and developmental delay. Bagatelle R; Cassidy SB Am J Med Genet; 1995 Jan; 55(3):367-71. PubMed ID: 7537019 [TBL] [Abstract][Full Text] [Related]
7. Interstitial deletion of 4p15.32p16.3 in a boy with minor anomalies, hearing loss, borderline intelligence, and oligodontia. Kozma C; Chong SS; Meck JM Am J Med Genet; 1999 Oct; 86(4):316-20. PubMed ID: 10494085 [TBL] [Abstract][Full Text] [Related]
8. Vertical transmission of the Ohdo blepharophimosis syndrome. Mhanni AA; Dawson AJ; Chudley AE Am J Med Genet; 1998 May; 77(2):144-8. PubMed ID: 9605288 [TBL] [Abstract][Full Text] [Related]
9. Mild phenotypic manifestation of a 7p15.3p21.2 deletion. Wang C; Maynard S; Glover TW; Biesecker LG J Med Genet; 1993 Jul; 30(7):610-2. PubMed ID: 8411039 [TBL] [Abstract][Full Text] [Related]
10. An autosomal recessive disorder with retardation of growth, mental deficiency, ptosis, pectus excavatum and camptodactyly. Khaldi F; Bennaceur B; Hammou A; Hamza M; Gharbi HA Pediatr Radiol; 1988; 18(5):432-5. PubMed ID: 3174286 [TBL] [Abstract][Full Text] [Related]
11. Ptosis, down-slanting palpebral fissures, hypertelorism, seizures and mental retardation: a possible new MCA/MR syndrome. Mégarbané A; Le Merrer M; el Kallab K Clin Dysmorphol; 1997 Jul; 6(3):239-44. PubMed ID: 9220194 [TBL] [Abstract][Full Text] [Related]
12. Conductive deafness with ptosis and skeletal malformations in sibs: a probably autosomal recessive disorder. Jackson LG; Barr MA Birth Defects Orig Artic Ser; 1978; 14(6B):199-204. PubMed ID: 728561 [No Abstract] [Full Text] [Related]
13. Choanal stenosis, hypothelia, deafness, recurrent dacryocystitis, neck fistulas, short stature, and microcephaly: report of a case. Dumić M; Cvitanović M; Sarić B; Spehar A; Batinica S Am J Med Genet; 2002 Dec; 113(3):295-7. PubMed ID: 12439900 [TBL] [Abstract][Full Text] [Related]
14. Etiology of chest wall deformities--a genetic review for the treating physician. Kotzot D; Schwabegger AH J Pediatr Surg; 2009 Oct; 44(10):2004-11. PubMed ID: 19853763 [TBL] [Abstract][Full Text] [Related]
15. Congenital ptosis and blepharophimosis in a mentally retarded girl: a new case of Ohdo syndrome? Rasmussen M; Strømme P Clin Dysmorphol; 1998 Jan; 7(1):61-3. PubMed ID: 9546834 [TBL] [Abstract][Full Text] [Related]
16. Ritscher-Schinzel cranio-cerebello-cardiac (3C) syndrome: report of four new cases and review. Leonardi ML; Pai GS; Wilkes B; Lebel RR Am J Med Genet; 2001 Aug; 102(3):237-42. PubMed ID: 11484200 [TBL] [Abstract][Full Text] [Related]
17. 5.9 Mb microdeletion in chromosome band 17q22-q23.2 associated with tracheo-esophageal fistula and conductive hearing loss. Puusepp H; Zilina O; Teek R; Männik K; Parkel S; Kruustük K; Kuuse K; Kurg A; Ounap K Eur J Med Genet; 2009; 52(1):71-4. PubMed ID: 18983945 [TBL] [Abstract][Full Text] [Related]