Upper-Extremity Phocomelia Reexamined

Goldfarb, Charles A.; Manske, Paul R.; Busa, Riccardo; Mills, Janith; Carter, Peter; Ezaki, Marybeth

doi:10.2106/jbjs.d.02011

Cited by 60 publications

(34 citation statements)

References 25 publications

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“…Finally, we will present new information regarding the underlying etiology of the various conditions and propose a modification to the IFSSH classification that is based on current concepts of developmental biology. 40,41 .…”

Section: Historymentioning

confidence: 99%

“…The classification was expanded by James et al 50 in 1999 to recognize radial-sided deficiencies limited to the carpus (type 0) and thumb (type N). More recently, the classification was extended by Goldfarb et al 40 to include type V. Type N. The radius and carpus are normal, with deficiencies limited to the thumb (see hypoplastic-thumb classification above).…”

Section: Deficiencies Of the Radiusmentioning

confidence: 99%

“…Frantz and O'Rahilly 21 initially proposed it as a severe intercalary segmental defect of the osseous structures of the arm and forearm. Recent authors 40,41 have challenged the concept of intercalary defects in that such defects are difficult to explain according to developmental biology concepts; rather, phocomelic upper limbs represent forms of longitudinal deficiency (radial, ulnar, or a combination of both) 40 . Extremities with type V radial longitudinal deficiency have the following characteristics:…”

Section: Deficiencies Of the Radiusmentioning

confidence: 99%

“…Of interest, none of the forearm-and-elbow classifications considers hand abnormalities; to address this limitation, Bayne's forearm and elbow classification has recently been modified 72 to include Type 0. Additionally, as noted in the presentation of radial deficiencies, Goldfarb et al 40 have added Type V to include those phocomelic extremities with characteristics suggestive of ulnar longitudinal deficiency.…”

Section: Forearm and Elbowmentioning

confidence: 99%

See 3 more Smart Citations

Classification and Developmental Biology of Congenital Anomalies of the Hand and Upper Extremity

Manske

Oberg

2009

Journal of Bone and Joint Surgery

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Section: Historymentioning

confidence: 99%

Section: Deficiencies Of the Radiusmentioning

confidence: 99%

Section: Deficiencies Of the Radiusmentioning

confidence: 99%

Section: Forearm and Elbowmentioning

confidence: 99%

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Classification and Developmental Biology of Congenital Anomalies of the Hand and Upper Extremity

Manske

Oberg

2009

Journal of Bone and Joint Surgery

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“…We couldn't classify our cases according to the Frantz and O'Rahilly system. We found that the classifications suggested by Tytherleigh-Strong and Hooper (2003) and Goldfarb et al (2005) could be promising alternatives for classification. One upper extremity was classified as type A, one as type B, and 7 as type C by Tytherleigh-Strong and Hooper's system.…”

mentioning

confidence: 96%

Phocomelia: The Clinical Manifestation, Classification and Surgical Treatment of Korean Patients with Phocomelia

Baek

Chung

Lee

et al. 2008

J Korean Orthop Assoc

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Purpose: Phocomelia is an extremely rare congenital anomaly of the upper extremity. There have been no clinical reports about phocomlia in Korea except for five birth reports. We present here the clinical features, classifications and surgical treatments of our phocomelia cases. Materials and Methods: From January 1993 to August 2007, seven patients were diagnosed as having phocomelia in 9 upper extremities at our clinic. Surgical treatments were performed for five patients on their hand anomalies. We retrospectively reviewed the medical records and radiographs of our cases, and we tried to classify them by the previously suggested systems. We evaluated the functional improvement and measured the VAS scale for parental satisfaction with the operative outcomes. Results: We could not find any problems during the fetal periods or any hereditary features. The bilaterally-affected patients also had deformities of the lower extremity, while the unilaterally-affected patients did not. We couldn't classify our cases according to the Frantz and O'Rahilly system. We found that the classifications suggested by Tytherleigh-Strong and Hooper (2003) and Goldfarb et al. (2005) could be promising alternatives for classification. One upper extremity was classified as type A, one as type B, and 7 as type C by Tytherleigh-Strong and Hooper's system. Using the Goldfarb's system, two upper extremities were classified as proximal radial longitudinal dysplasia, and seven were classified as proximal ulnar longitudinal dysplasia. Three patients who underwent pollicization showed opposition and tip pinch. Two patients who underwent syndactyly division could do lateral pinch. The VAS scale for parental satisfaction with the functional improvement averaged 8.2 postoperatively. Conclusion: The bilateral cases had different clinical features from unilateral ones. Phocomelia could not simply be classified by the Frantz and O'Rahilly system, and it may not be a true transverse intercalary deficiency. We could gain functional improvement after operations on the hand anomalies.

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A 13‐year‐old boy with a 7q36.1q36.3 deletion with additional findings

Hyohyeon

Lee

2014

American J of Med Genetics Pt A

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Relatively little is known about 7q terminal deletion contiguous gene deletion syndrome. The deleted region includes more than 40 OMIM genes. We here report on a 13-year-old boy with 7q terminal deletion syndrome, a 6.89-Mb sized deletion on 7q36.1q36.3, identified by oligonucleotide array comparative genomic hybridization (CGH). He showed microform holoprosencephaly with microcephaly, distinctive facial features, severe intellectual disabilities, behavior problems, seizures, short stature, penoscrotal transposition, and ulnar ray deficiency. To date, no case of penoscrotal transposition or ulnar ray deficiency has been reported in 7q terminal syndrome. The majority of our patient presentations were attributed to dosage expression of the SHH gene with contributions from deleted genes within 7q.

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Upper-Extremity Phocomelia Reexamined

Abstract: We propose that cases previously classified as upper-extremity phocomelia represent a spectrum of severe longitudinal dysplasia, as none of the sixty extremities that we studied demonstrated a true intercalary deficiency. These findings have both developmental and genetic implications.

Cited by 60 publications

References 25 publications

Classification and Developmental Biology of Congenital Anomalies of the Hand and Upper Extremity

Classification and Developmental Biology of Congenital Anomalies of the Hand and Upper Extremity

Phocomelia: The Clinical Manifestation, Classification and Surgical Treatment of Korean Patients with Phocomelia

A 13‐year‐old boy with a 7q36.1q36.3 deletion with additional findings

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