Purpose
Radial longitudinal deficiency (RLD) presents on a spectrum of severity and associated
diagnoses. The literature is limited in describing patient presentation without comparative
data between countries. In a study comparing 2 cohorts of patients, 1 in the United
States and 1 in Japan, we hypothesized that there would be a similar presentation
of forearm deficiency severity, thumb hypoplasia severity, and associated syndromes
between the 2 cohorts.
Methods
Patients with RLD were identified via a comprehensive chart review at 2 pediatric
hospital cohorts, 1 in the United States and 1 in Japan, capturing patients presenting
over 15 years. We assessed RLD and thumb hypoplasia severity via a modified Bayne
and Klug and modified Blauth classifications. The relationship between these 2 diagnoses
and the presence of common medical conditions were evaluated and correlated.
Results
A total of 194 Japanese patients with 290 involved extremities were compared with
107 U.S. patients with 174 involved extremities. The U.S. cohort had a significantly
more severe RLD, and a higher rate of bilaterality (63% vs 50%, respectively). A total
of 131 Japanese patients (68%) and 41 U.S. patients (38%) had associated medical syndromes/associations,
most frequently vertebral abnormalities, anal atresia, cardiac abnormalities, tracheoesophageal
fistula and/or esophageal atresia, renal agenesis and dysplasia, and limb defects
(VACTERL; 46 Japanese, 14 U.S.), Holt-Oram (44 Japanese, 5 U.S.), and thrombocytopenia
absent radius syndrome (0 Japanese, 12 U.S.). Correlation analysis showed that increased
RLD severity was associated with increased thumb hypoplasia severity in both groups,
with 95% of modified Bayne and Klug III, IV, or V patients having severely affected
thumbs (type IIIb, IV, or V).
Conclusions
The U.S. patients had a more severe RLD and a higher rate of bilaterality. Japanese
patients had a higher incidence of associated syndromes and radial polydactyly. Both
cohorts showed that increased forearm severity was associated with more severe thumb
hypoplasia.
Type of study/level of evidence
Differential diagnosis/symptom prevalence study III.
Key words
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References
- Flatt A. The Care of Congenital Hand Anomalies. 2nd ed. Quality Medical Publishing, St. Louis1994
- Malformations and deformities of the wrist and forearm—clinical key.in: Wolfe S.W. Pederson W.C. Hotchkiss R.N. Kozin S.H. Cohen M.S. Green's Operative Hand Surgery. 7th ed. Elsevier, Philadelphia2017: 1328-1364
- Congenital upper limb deficiencies and associated malformations in Finland: a population-based study.J Hand Surg Am. 2011; 36: 1058-1065
- The spectrum of radial longitudinal deficiency: a modified classification.J Hand Surg Am. 1999; 24: 1145-1155
- Characteristics of patients with hypoplastic thumbs.J Hand Surg Am. 1996; 21: 104-113
- Radial longitudinal deficiency: the incidence of associated medical and musculoskeletal conditions.J Hand Surg Am. 2006; 31: 1176-1182
- Upper-extremity phocomelia reexamined: a longitudinal dysplasia.J Bone Joint Surg Am. 2005; 87: 2639-2648
- Radial ray defects and associated anomalies.Clin Genet. 1989; 35: 322-330
- Congenital hand anomaly: etiology and associated malformations.Hand Clin. 1985; 1: 405-415
- A study of major congenital defects in Japanese infants.Am J Hum Genet. 1958; 10: 398-445
- Current status and perspectives in the Kanagawa birth defects monitoring program (KAMP).Congenit Anom (Kyoto). 1984; 24: 385-393
- Upper limb deficiencies and associated malformations: a population-based study.Am J Med Genet. 1992; 44: 767-781
- Congenital limb anomalies:frequency and aetiological factors. Data from the Edinburgh Register of the Newborn (1964–68).J Med Genet. 1974; 11: 221-233
- Birth prevalence for congenital limb defects in the northern Netherlands: a 30-year population-based study.BMC Musculoskelet Disord. 2013; 14: 323
- Epidemiology of congenital upper limb anomalies in 562 children born in 1997 to 2007: a total population study from Stockholm, Sweden.J Hand Surg Am. 2010; 35: 1742-1754
- Infants with congenital limb reduction registered in the Swedish Register of Congenital Malformations.Teratology. 1984; 29: 73-85
- Incidence and secular trends of congenital limb defects in Finland.Int J Epidemiol. 1982; 11: 239-244
- Congenital limb deficiencies in Alberta—a review of 33 years (1980–2012) from the Alberta Congenital Anomalies Surveillance System (ACASS).Am J Med Genet A. 2015; 167A: 2599-2609
- Long-term review of the surgical treatment of radial deficiencies.J Hand Surg Am. 1987; 12: 169-179
- The association of radial deficiency with thumb hypoplasia.J Bone Joint Surg Am. 2004; 86: 2196-2205
- Epidemiology of congenital upper limb anomalies in a midwest United States population: an assessment using the Oberg, Manske, and Tonkin classification.J Hand Surg Am. 2015; 40 (e1–e2): 127-132
- Congenital anomalies of the upper limb among the Japanese in Sapporo.J Hand Surg Br. 1986; 11: 364-371
- Congenital hand anomalies, and their association with other congenital abnormalities.Hand. 1981; 13: 267-270
- Experimental study of radial ray deficiency.J Hand Surg Br. 1990; 15: 470-476
- Clinical and experimental studies on teratogenic mechanisms of congenital absence of digits in longitudinal deficiencies.Congenit Anom (Kyoto). 1993; 33: 187-196
- Congenital hand anomalies in Japan: a family study.J Hand Surg Am. 1990; 15: 439-444
- Congenital Deformities of the Hand: An Atlas of Their Surgical Treatment.Berlin: Springer, 1980
- The results of surgery for polydactyly of the thumb. A review.Clin Orthop Relat Res. 1969; 64: 175-193
- International Classification of Diseases, 9th Revision, Clinical Modification ed.World Health Organization, Geneva1996
- International Classification of Diseases, 10th Revision.World Health Organization, Geneva2010
- The International Clearinghouse for Birth Defects Monitoring Systems: past, present and future.Int J Risk Saf Med. 1991; 2: 239-248
- Registries of congenital anomalies: EUROCAT.Environ Health Perspect. 1993; 101: 153-157
- A classification for congenital limb malformations.J Hand Surg Am. 1976; 1: 8-22
- Developmental biology and classification of congenital anomalies of the hand and upper extremity.J Hand Surg Am. 2010; 35: 2066-2076
- Recording congenital differences of the upper limb.J Hand Surg Br. 2003; 28: 205-214
International Clearinghouse for Birth Defects Surveillance and Research. Annual Report 2014. Rome, Italy: The International Centre on Birth Defects - ICBDSR Centre; 2014.
- Thrombocytopenia with absent radii syndrome: studies on serum thrombopoietin levels and megakaryopoiesis in vitro.J Pediatr Hematol Oncol. 1998; 20: 74-78
- Thumb function and appearance in thrombocytopenia: absent radius syndrome.J Hand Surg Am. 2007; 32: 157-161
- Preaxial polydactyly of the upper limb viewed as a spectrum of severity of embryonic events.Ann Plast Surg. 2013; 71: 118-124
- Experimental evidence that preaxial polydactyly and forearm radial deficiencies may share a common developmental origin.J Hand Surg Eur Vol. 2019; 44: 43-50
Article info
Publication history
Published online: January 17, 2020
Accepted:
December 4,
2019
Received:
March 15,
2019
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.
