Presentation
His father had unilateral post-axial polydactyly, which was also present bilaterally in a paternal uncle. [analesdepediatria.org]
Short metacarpals and symphalangism are occasionally present. The feet are either normal or show ordinary brachydactyly. [ojrd.biomedcentral.com]
Entire Body System
- Short Stature
Br-J-Ophthalmol. 1990 Oct; 74(10): 631-4 MacDermot,-K-D; Patton,-M-A; Williams,-M-J; Winter,-R-M Hypertrichosis cubiti (hairy elbows) and short stature: a recognisable association. J-Med-Genet. 1989 Jun; 26(6): 382-5 [malattierare.regione.veneto.it]
Brachydactyly type E occurs with short stature and severe hypertension as an autosomal dominant syndrome (OMIM: 112410). [ojrd.biomedcentral.com]
Musculoskeletal
- Brachydactyly
Novel indel mutation in the GDF5 gene is associated with brachydactyly type C in a four-generation Turkish family. Mol Syndromol, 5 (2014), pp. 81-86 [3] W. Yang, L. Cao, W. Liu, L. Jiang, M. Sun, D. Zhang, et al. [analesdepediatria.org]
Figure 1 illustrates the changes in the main types of isolated brachydactyly. Table 2 shows the genomics of isolated brachydactyly. Figure 1 A diagram showing main types of isolated brachydactyly. Modified from Temtamy & McKusick [1]. [ojrd.biomedcentral.com]
[…] action=getRecordDetail&idt=808690 Other title Brachydactyly type B and Robinow syndrome : mutations of a single gene associated with two distinct phenotypes (en) Author GILGENKRANTZ, Simone Source MS. [pascal-francis.inist.fr]
Workup
X-Ray
- Delayed Bone Age
[…] with delayed bone age, Madelung deformity, hip dysplasia, talipes valgus or equinovarus or absence of middle phalanges in the toes.2,3 We present the case of a boy aged 7 years with radiological features compatible with BDC referred for evaluation of [analesdepediatria.org]
Epidemiology
Epidemiology A very rare digital malformation. No epidemiologic studies available. Reported pedigrees are summarized in OMIM [4]. [ojrd.biomedcentral.com]