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Select item 86061991.

Identification of novel ACAN mutations in two Chinese families and genotype–phenotype correlation in patients with 74 pathogenic ACAN variations

Ming Wei, Yanqin Ying, Zhuxi Li, Ying Weng, Xiaoping Luo

Mol Genet Genomic Med. 2021 Nov; 9(11): e1823. Published online 2021 Oct 3. doi: 10.1002/mgg3.1823

PMCID:: PMC8606199

Article PDF–1.0M

Select item 47992572.

Patients with anorectal malformation and upper limb anomalies: genetic evaluation is warranted

Desiree van den Hondel, Charlotte H. W. Wijers, Yolande van Bever, Annelies de Klein, Carlo L. M. Marcelis, Ivo de Blaauw, Cornelius E. J. Sloots, Hanneke IJsselstijn

Eur J Pediatr. 2016; 175: 489–497. Published online 2015 Oct 24. doi: 10.1007/s00431-015-2655-9

PMCID:: PMC4799257

Article PDF–368K

Select item 34007303.

TBX5 intragenic duplication: a family with an atypical Holt–Oram syndrome phenotype

Chirag Patel, Lee Silcock, Dominic McMullan, Louise Brueton, Helen Cox

Eur J Hum Genet. 2012 Aug; 20(8): 863–869. Published online 2012 Feb 15. doi: 10.1038/ejhg.2012.16

PMCID:: PMC3400730

Article PDF–436K

Select item 10514684.

Mesoaxial complete syndactyly and synostosis with hypoplastic thumbs: an unusual combination or homozygous expression of syndactyly type I?

E F Percin, S Percin, H Egilmez, I Sezgin, F Ozbas, A N Akarsu

J Med Genet. 1998 Oct; 35(10): 868–874. doi: 10.1136/jmg.35.10.868

PMCID:: PMC1051468

Summary Page Browse PDF–1.6M

Select item 10513665.

Smith-Lemli-Opitz syndrome: a variable clinical and biochemical phenotype.

A K Ryan, K Bartlett, P Clayton, S Eaton, L Mills, D Donnai, R M Winter, J Burn

J Med Genet. 1998 Jul; 35(7): 558–565. doi: 10.1136/jmg.35.7.558

PMCID:: PMC1051366

Summary Page Browse PDF–2.1M

Select item 10169036.

Autosomal dominant inheritance of abnormalities of the hands and feet with short palpebral fissures, variable microcephaly with learning disability, and oesophageal/duodenal atresia.

H G Brunner, R M Winter

J Med Genet. 1991 Jun; 28(6): 389–394. doi: 10.1136/jmg.28.6.389

PMCID:: PMC1016903

Summary Page Browse PDF–1.5M

Select item 10155387.

Further delineation of the Yunis-Varon syndrome.

R C Hennekam, C Vermeulen-Meiners

J Med Genet. 1989 Jan; 26(1): 55–58. doi: 10.1136/jmg.26.1.55

PMCID:: PMC1015538

Summary Page Browse PDF–804K

Select item 109657498.

A rare case of Fanconi anemia with Mitomycin C sensitivity: A pediatrics case report

Vraj Bhatt, Sunidhi Rohatgi, Mansi Singh

Clin Case Rep. 2024 Apr; 12(4): e8711. Published online 2024 Mar 26. doi: 10.1002/ccr3.8711

PMCID:: PMC10965749

Article PDF–673K

Select item 109121019.

A 23‐year‐old patient with bilateral hypoplastic thumbs and toes: A case report

Suaad Hamsho, Mouhammed Sleiay, Mohammed Alaswad, Hasan Alsmodi, Khaled Al‐Hakeem

Clin Case Rep. 2024 Mar; 12(3): e8567. Published online 2024 Mar 4. doi: 10.1002/ccr3.8567

PMCID:: PMC10912101

Article PDF–629K

Select item 1066853110.

Satisfactory thumb metacarpophalangeal joint stability after ligament reconstruction with flexor digitorum superficialis in children with radial longitudinal deficiency

Ida Neergård Sletten, Jarkko Jokihaara, Anne Birgit Stavenes, Mona Irene Winge

J Hand Surg Eur Vol. 2023 Dec; 48(11): 1151–1158. Published online 2023 Jul 13. doi: 10.1177/17531934231187813

PMCID:: PMC10668531

Article PDF–356K

Select item 1053230311.

An Alternative Treatment Option for Blauth III B Thumb Hypoplasia—Thumb Stabilization with Iliac Crest Bone Graft and Intermetacarpal Arthrodesis

Simon Oeckenpöhler, Martin Franz Langer, Anna Wichmann, Johannes Glasbrenner, Oliver Riesenbeck

J Clin Med. 2023 Sep; 12(18): 5977. Published online 2023 Sep 15. doi: 10.3390/jcm12185977

PMCID:: PMC10532303

Article PDF–6.5M

Select item 1036017212.

Aesthetic outcomes of and anatomic reconstruction for Wassel type IV-D radial polydactyly using a modified Bilhaut-Cloquet procedure

Zijing Du, Yan Cui, Hao Jiang, Dong Han

Front Pediatr. 2023; 11: 1192168. Published online 2023 Jul 7. doi: 10.3389/fped.2023.1192168

PMCID:: PMC10360172

Article PDF–16M

Select item 999955713.

Congenital hypoplastic thumbs treated by staged nonvascularized MTP joint transfer for absent MCP joints and abductor digiti minimi tendon transfer for opposition: a case series study

Ramin Zargarbashi, Behnam Panjavi, Mohammadreza Bozorgmanesh

BMC Musculoskelet Disord. 2023; 24: 179. Published online 2023 Mar 10. doi: 10.1186/s12891-023-06165-8

PMCID:: PMC9999557

Article PDF–1.5M

Select item 989554014.

Cochlear Implantation in Goldenhar Syndrome

Shubhangi Gupta, Sunil Samdani, Jairaj Kumar Vaishnav, Yogendra Singh, Mohnish Grover

Indian J Otolaryngol Head Neck Surg. 2022 Dec; 74(Suppl 3): 4159–4163. Published online 2021 Sep 25. doi: 10.1007/s12070-021-02874-5

PMCID:: PMC9895540

Article PDF–631K

Select item 916397615.

Treatment of Congenital Radioulnar Synostosis Using a Free Vascularized Fascia Lata Graft

Fan Bai, Shanlin Chen, Lu Liu, Dedi Tong, Pengcheng Li, Yanbo Rong, Jingheng Wu, Bo Liu, Yong Yang, Shufeng Wang

Orthop Surg. 2022 Jun; 14(6): 1229–1234. Published online 2022 May 7. doi: 10.1111/os.13226

PMCID:: PMC9163976

Article PDF–30M

Select item 872180116.

Salvage Reconstruction of a Congenital Hypoplastic Thumb Due to Constriction Ring Syndrome Using a Third Toe Transfer, When the Usual Donor Sites of Index Finger, Great and Second Toes Are Not Available

Pengcheng Wang, Neil F. Jones

Hand (N Y) 2022 Jan; 17(1): NP1–NP4. Published online 2021 Mar 7. doi: 10.1177/1558944721998003

PMCID:: PMC8721801

Article PDF–1.1M

Select item 867471617.

Occurrence of Esophageal Atresia With Tracheoesophageal Fistula in Siblings From Three-Generation Family Affected by Variable Expressivity MYCN Mutation: A Case Report

Magdalena Klaniewska, Krystian Toczewski, Anna Rozensztrauch, Michal Bloch, Agata Dzielendziak, Piotr Gasperowicz, Ryszard Slezak, Rafał Ploski, Małgorzata Rydzanicz, Robert Smigiel, Dariusz Patkowski

Front Pediatr. 2021; 9: 783553. Published online 2021 Dec 2. doi: 10.3389/fped.2021.783553