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24. Arthrogryposis multiplex congenita, craniofacial, and ophthalmological abnormalities and normal intelligence: a new syndrome? al-Ghamdi MA; Polomeno RC; Chitayat D; Azouz EM; Teebi AS Am J Med Genet; 1997 Sep; 71(4):401-5. PubMed ID: 9286445 [TBL] [Abstract][Full Text] [Related]
26. Distal arthrogryposis type 5 and PIEZO2 novel variant in a Canadian family. Zapata-Aldana E; Al-Mobarak SB; Karp N; Campbell C Am J Med Genet A; 2019 Jun; 179(6):1034-1041. PubMed ID: 30938034 [TBL] [Abstract][Full Text] [Related]
27. An apparently new autosomal recessive syndrome with facial dysmorphism, macrocephaly, myopia and Dandy-Walker malformation. Buttiens M; Fryns JP; van den Berghe H Clin Genet; 1989 Dec; 36(6):451-55. PubMed ID: 2591071 [TBL] [Abstract][Full Text] [Related]
28. Limb pterygium syndromes: a review and report of eleven patients. Hall JG; Reed SD; Rosenbaum KN; Gershanik J; Chen H; Wilson KM Am J Med Genet; 1982 Aug; 12(4):377-409. PubMed ID: 7124793 [TBL] [Abstract][Full Text] [Related]
29. An autosomal recessive adducted thumb-club foot syndrome observed in Turkish cousins. Dundar M; Demiryilmaz F; Demiryilmaz I; Kumandas S; Erkilic K; Kendirci M; Tuncel M; Ozyazgan I; Tolmie JL Clin Genet; 1997 Jan; 51(1):61-4. PubMed ID: 9084938 [TBL] [Abstract][Full Text] [Related]
30. MuSK: a new target for lethal fetal akinesia deformation sequence (FADS). Wilbe M; Ekvall S; Eurenius K; Ericson K; Casar-Borota O; Klar J; Dahl N; Ameur A; Annerén G; Bondeson ML J Med Genet; 2015 Mar; 52(3):195-202. PubMed ID: 25612909 [TBL] [Abstract][Full Text] [Related]
31. Complete trisomy 9 with unusual phenotypic associations: Dandy-Walker malformation, cleft lip and cleft palate, cardiovascular abnormalities. Tonni G; Lituania M; Chitayat D; Bonasoni MP; Keating S; Thompson M; Shannon P Taiwan J Obstet Gynecol; 2014 Dec; 53(4):592-7. PubMed ID: 25510707 [TBL] [Abstract][Full Text] [Related]
33. Lethal multiple pterygium syndrome: report of a case with neurological anomalies. Spearritt DJ; Tannenberg AE; Payton DJ Am J Med Genet; 1993 Aug; 47(1):45-9. PubMed ID: 8368251 [TBL] [Abstract][Full Text] [Related]
36. Marden-Walker syndrome: a case report and a critical review of the literature. Williams MS; Josephson KD; Wargowski DS Clin Dysmorphol; 1993 Jul; 2(3):211-9. PubMed ID: 7506965 [TBL] [Abstract][Full Text] [Related]
37. Two female siblings with a previously unreported MCA/MR syndrome: pre- and postnatal growth retardation, iris colobomata, spasticity, facial dysmorphism and dilated ventricles. Yüksel A; Seven M; Deviren A; Söylemez MA; Hacihanefioğlu S; Ulutin T; Cenani A Genet Couns; 1999; 10(3):265-9. PubMed ID: 10546098 [TBL] [Abstract][Full Text] [Related]
38. The Marden-Walker syndrome. King CR; Magenis E J Med Genet; 1978 Oct; 15(5):366-9. PubMed ID: 739527 [TBL] [Abstract][Full Text] [Related]
39. A syndrome of ankylosis, facial anomalies and pulmonary hypoplasia secondary to fetal neuromuscular dysfunction. Mease AD; Yeatman GW; Pettett G; Merenstein GB Birth Defects Orig Artic Ser; 1976; 12(5):193-200. PubMed ID: 953224 [No Abstract] [Full Text] [Related]
40. [Arthrogryposis multiplex congenita with associated abnormalities. Case report of a fatal course in a premature triplet]. Cremer R; Künzer W Monatsschr Kinderheilkd; 1988 Aug; 136(8):464-6. PubMed ID: 3221896 [TBL] [Abstract][Full Text] [Related] [Previous] [Next] [New Search]