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Aplasia of the proximal phalanges of the toes

MedGen UID:
867717
•Concept ID:
C4022106
•
Finding
Synonym: Absent innermost toe bones
 
HPO: HP:0100388

Professional guidelines

PubMed

Prenatal sonographic diagnosis of Aarskog syndrome.
Sepulveda W, Dezerega V, Horvath E, Aracena M
J Ultrasound Med 1999 Oct;18(10):707-10. doi: 10.7863/jum.1999.18.10.707. PMID: 10511304

Recent clinical studies

Etiology

Morphologic Changes in Postaxial Polydactyly of the Foot: A Standardized Quantitative Analysis Using the Watanabe-Fujita Classification.
Makino A, Saito S
Plast Reconstr Surg 2024 Jan 1;153(1):170e-180e. Epub 2023 Apr 20 doi: 10.1097/PRS.0000000000010565. PMID: 37075280
Donor Foot Morbidity Following Nonvascularized Toe Phalanx Transfer Utilizing a New Reconstruction Technique.
Kawabata H, Okuno K, Tamura D, Higuchi C, Goldfarb CA
J Pediatr Orthop 2023 Sep 1;43(8):522-528. Epub 2023 Jul 3 doi: 10.1097/BPO.0000000000002465. PMID: 37400088
Midterm and Long-term Follow-up After Surgical Reconstruction for Lateral Polydactyly of the Foot With Mosaic-like Alignment of the Phalanx Bones.
Iba K, Ozasa Y, Hanaka M, Hayakawa H, Kanaya K, Yamashita T
J Pediatr Orthop 2020 Jan;40(1):e30-e36. doi: 10.1097/BPO.0000000000001381. PMID: 30950938
The spectrum of preaxial polydactyly of the foot.
Belthur MV, Linton JL, Barnes DA
J Pediatr Orthop 2011 Jun;31(4):435-47. doi: 10.1097/BPO.0b013e3182199a68. PMID: 21572282
Treatment of the hands and feet in Apert syndrome: an evolution in management.
Fearon JA
Plast Reconstr Surg 2003 Jul;112(1):1-12; discussion 13-9. doi: 10.1097/01.PRS.0000065908.60382.17. PMID: 12832871

Diagnosis

Multiple synostoses syndrome: Clinical report and retrospective analysis.
Pan Z, Lu W, Li X, Huang S, Dai P, Yuan Y
Am J Med Genet A 2020 Jun;182(6):1438-1448. Epub 2020 Apr 7 doi: 10.1002/ajmg.a.61583. PMID: 32259393
How many entities exist for the spectrum of disorders associated with brachydactyly, syndactyly, short stature, microcephaly, and intellectual disability?
Ravel A, Chouery E, Stora S, Jalkh N, Villard L, Temtamy S, Mégarbané A
Am J Med Genet A 2011 Apr;155A(4):880-4. Epub 2011 Mar 17 doi: 10.1002/ajmg.a.33879. PMID: 21416592
Cryptophthalmos--syndactyly syndrome.
Sinha S, Chaudhary SN
J Indian Med Assoc 2006 Aug;104(8):474-5. PMID: 17240806
Prenatal sonographic diagnosis of Aarskog syndrome.
Sepulveda W, Dezerega V, Horvath E, Aracena M
J Ultrasound Med 1999 Oct;18(10):707-10. doi: 10.7863/jum.1999.18.10.707. PMID: 10511304
Deformities of the smaller toes and surgical treatment.
Turan I
J Foot Surg 1990 Mar-Apr;29(2):176-8. PMID: 2338477

Therapy

Midterm and Long-term Follow-up After Surgical Reconstruction for Lateral Polydactyly of the Foot With Mosaic-like Alignment of the Phalanx Bones.
Iba K, Ozasa Y, Hanaka M, Hayakawa H, Kanaya K, Yamashita T
J Pediatr Orthop 2020 Jan;40(1):e30-e36. doi: 10.1097/BPO.0000000000001381. PMID: 30950938
Congenital hypoplastic anemia in six patients: unusual association of short proximal phalanges with mild anemia.
Cetin M, Kara A, Gürgey A, Gümrük F, Irken G, Yetgin S, Altay C
Pediatr Hematol Oncol 1995 Mar-Apr;12(2):153-8. doi: 10.3109/08880019509029548. PMID: 7626383
Deformities of the smaller toes and surgical treatment.
Turan I
J Foot Surg 1990 Mar-Apr;29(2):176-8. PMID: 2338477

Prognosis

Midterm and Long-term Follow-up After Surgical Reconstruction for Lateral Polydactyly of the Foot With Mosaic-like Alignment of the Phalanx Bones.
Iba K, Ozasa Y, Hanaka M, Hayakawa H, Kanaya K, Yamashita T
J Pediatr Orthop 2020 Jan;40(1):e30-e36. doi: 10.1097/BPO.0000000000001381. PMID: 30950938
Radiologic Patterning of Hallux Deformity in Rheumatoid Arthritis and Its Relationship to Flatfoot.
Matsumoto T, Nakada I, Juji T, Nakamura I, Ito K
J Foot Ankle Surg 2016 Sep-Oct;55(5):948-54. Epub 2016 Jun 8 doi: 10.1053/j.jfas.2016.04.011. PMID: 27289217
The spectrum of preaxial polydactyly of the foot.
Belthur MV, Linton JL, Barnes DA
J Pediatr Orthop 2011 Jun;31(4):435-47. doi: 10.1097/BPO.0b013e3182199a68. PMID: 21572282
Symphalangism (two phalanges) in the digits of the Japanese foot.
Nakashima T, Hojo T, Suzuki K, Ijichi M
Ann Anat 1995 May;177(3):275-8. doi: 10.1016/S0940-9602(11)80199-8. PMID: 7598223
Proximal toe phalanx transplantation for bony stabilization and lengthening of partially aplastic digits.
Buck-Gramcko D, Pereira JA
Ann Chir Main Memb Super 1990;9(2):107-18. doi: 10.1016/s0753-9053(05)80487-9. PMID: 1695513

Clinical prediction guides

Midterm and Long-term Follow-up After Surgical Reconstruction for Lateral Polydactyly of the Foot With Mosaic-like Alignment of the Phalanx Bones.
Iba K, Ozasa Y, Hanaka M, Hayakawa H, Kanaya K, Yamashita T
J Pediatr Orthop 2020 Jan;40(1):e30-e36. doi: 10.1097/BPO.0000000000001381. PMID: 30950938
Bilateral Macrodactyly of the Halluces in an Adolescent Girl Corrected with Shortening Osteotomies of the First Metatarsal and the Phalangeal Bones: A Case Report.
Kalb JP, Suarez DA, Herrera AM
JBJS Case Connect 2018 Jul-Sep;8(3):e58. doi: 10.2106/JBJS.CC.17.00314. PMID: 30045081
Radiologic Patterning of Hallux Deformity in Rheumatoid Arthritis and Its Relationship to Flatfoot.
Matsumoto T, Nakada I, Juji T, Nakamura I, Ito K
J Foot Ankle Surg 2016 Sep-Oct;55(5):948-54. Epub 2016 Jun 8 doi: 10.1053/j.jfas.2016.04.011. PMID: 27289217
The spectrum of preaxial polydactyly of the foot.
Belthur MV, Linton JL, Barnes DA
J Pediatr Orthop 2011 Jun;31(4):435-47. doi: 10.1097/BPO.0b013e3182199a68. PMID: 21572282
Symphalangism (two phalanges) in the digits of the Japanese foot.
Nakashima T, Hojo T, Suzuki K, Ijichi M
Ann Anat 1995 May;177(3):275-8. doi: 10.1016/S0940-9602(11)80199-8. PMID: 7598223

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