References:
1. Rodríguez JI, Palacios J, Urioste M. New acrofacial dysostosis
syndrome in 3 sibs. Am J Med Genet 1990 Apr;35(4):484-9.
2. Irving MD, Dimitrov BI, Wessels M, Holder-Espinasse M, Chitayat D,
Simpson MA. Rodriguez acrofacial dysostosis is caused by apparently de
novo heterozygous mutations in the SF3B4 gene. Am J Med Genet A2016 Dec;170(12):3133-3137.
3. Czeschik JC, Voigt C, Alanay Y, Albrecht B, Avci S, Fitzpatrick D,
Goudie DR, Hehr U, Hoogeboom AJ, Kayserili H, Simsek-Kiper PO,
Klein-Hitpass L, Kuechler A, López-González V, Martin M, Rahmann S,
Schweiger B, Splitt M, Wollnik B, Lüdecke HJ, Zeschnigk M, Wieczorek D.
Clinical and mutation data in 12 patients with the clinical diagnosis of
Nager syndrome. Hum Genet 2013 Aug;132(8):885-98.
4. Bernier FP, Caluseriu O, Ng S, Schwartzentruber J, Buckingham KJ,
Innes AM, Jabs EW, Innis JW, Schuette JL, Gorski JL, Byers PH,
Andelfinger G, Siu V, Lauzon J, Fernandez BA, McMillin M, Scott RH,
Racher H; FORGE Canada Consortium, Majewski J, Nickerson DA, Shendure J,
Bamshad MJ, Parboosingh JS. Haploinsufficiency of SF3B4, a component of
the pre-mRNA spliceosomal complex, causes Nager syndrome. Am J Hum
Genet 2012 May 4;90(5):925-33.
Figure 1: (A, B) Clinical photographs: note upper limb
phocomelia with absent thumbs and facial abnormalities with
micrognathia. (C) Postmortem radiographs: hypoplasia of the
scapular wings, severely hypoplastic, triangular-shaped humeri, elbow
synostosis, radioulnar hypoplasia, and absence of the first digits. The
lower limbs are unremarkable.