Purpose
Thumb polydactyly and thumb hypoplasia are generally regarded as separate clinical entities.
However, several case reports indicate that hypoplasia of both the thumb and the radius
can occur in patients with thumb polydactyly and improved understanding of the genetics
of the developing upper limb may give an embryologic explanation for this occurrence.
Our hypothesis was that patients with preaxial polydactyly can have ipsilateral thumb
hypoplasia that may not be recognized until after surgical reconstruction of the extra
digit.
Methods
We searched our surgical database for all procedures performed on patients with a
diagnosis of preaxial polydactyly between 2002 and 2014. We reviewed the medical record
for demographic data, surgical procedures, and follow-up information. In addition,
all available radiographs were reviewed. Through this, we identified patients with
a diagnosis of ipsilateral thumb hypoplasia, including when in the course of treatment
the diagnosis was made, and any related subsequent procedures.
Results
We reviewed 132 patients who underwent reconstruction of thumb polydactyly, 10 of
whom were identified as having evidence of ipsilateral thumb hypoplasia, an incidence
of 8.2%. The diagnosis of thumb hypoplasia was made before surgery in 3 of the 10
patients. One additional patient was noted to have a duplicate thumb on one side and
a hypoplastic thumb on the contralateral side.
Conclusions
This study supports the hypothesis that children with preaxial polydactyly can have
ipsilateral thumb hypoplasia that may not be noted before surgery. In this study group,
8% of patients with preaxial polydactyly had ipsilateral hypoplasia.
Type of study/level of evidence
Prognostic IV.
Key words
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References
- Thumb polydactyly as a part of the range of genetic expression for thenar hypoplasia.Clin Pediatr. 1987; 26: 142-148
- Thumb polydactyly with radius hypoplasia—a case report.J Hand Surg Am. 2006; 31: 1667-1670
- Thumb duplication and contralateral thumb hypoplasia in infant of mother with diabetes.J Hand Surg Am. 1991; 16: 133-135
- Radial clubhand and contralateral duplicated thumb.J Hand Surg Am. 1994; 19: 361-363
- Polydactyly: how many disorders and how many genes? 2010 update.Dev Dyn. 2011; 240: 931-942
- Clinical and genetic studies on 12 preaxial polydactyly families and refinement of the localization of the gene responsible to a 1.0cM region on chromosome 7q36.J Med Genet. 1999; 36: 33-40
- Identification of two novel mutations in Shh long-range regulator associated with familial pre-axial polydactyly.Clin Genet. 2011; 79: 371-377
- Two novel point mutations in the long-range SHH enhancer in three families with triphalangeal thumb and preaxial polydactyly.Am J Med Genet A. 2007; 143: 27-32
- Duplication of the thumb: a retrospective review of two hundred and thirty-seven cases.J Bone Joint Surg Am. 1983; 65: 584-598
- The results of surgery for polydactyly of the thumb.Clin Orthop Relat Res. 1969; 64: 175-193
- Type III-A hypoplastic thumb.J Hand Surg Am. 1995; 20: 246-253
- The genetics of hand malformations.Birth Defects Orig Artic Ser. 1978; 14 (i–xviii, 1–619)
- A family with complex bilateral polysyndactyly.J Hand Surg Am. 1988; 13: 405-407
- Non-opposable triphalangeal thumb in an Italian family.J Med Genet. 1988; 25: 337-339
- Three cases of syndactyly, polydactyly, and hypoplastic triphalangeal thumb (Haas’s malformation).J Hand Surg Am. 1990; 15: 445-449
- Phenotypic analysis of triphalangeal thumb and associated hand malformations.J Med Genet. 1994; 31: 462-467
- Developmental biology and classification of congenital anomalies of the hand and upper extremity.J Hand Surg Am. 2010; 35: 2066-2076
- A classification for congenital malformations of the hand.Bull Acad Med N J. 1964; 10: 166-169
- A novel mutation in the SHH long-range regulator (ZRS) is associated with preaxial polydactyly, triphalangeal thumb, and severe radial ray deficiency.Am J Med Genet A. 2012; 158: 2610-2615
- Experimental evidence that preaxial polydactyly and forearm radial deficiencies may share a common developmental origin.J Hand Surg Eur Vol. 2019; 44: 43-50
- Fanconi anemia with concurrent thumb polydactyly and dorsal dimelia: a case report with discussion of embryology.Ann Plast Surg. 2013; 70: 116-118
- Fanconi’s anaemia and unilateral thumb polydactyly—don’t miss it.J Plast Reconstr Aesthet Surg. 2012; 65: 1083-1086
- Defining postoperative stability in children with radial polydactyly.J Hand Surg Eur Vol. 2016; 41: 275-280
Article info
Publication history
Published online: January 13, 2020
Accepted:
November 6,
2019
Received:
April 11,
2017
Footnotes
No benefits in any form have been received or will be received related directly or indirectly to the subject of this article.
Identification
Copyright
© 2020 by the American Society for Surgery of the Hand. All rights reserved.
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