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Short middle phalanx of finger

MedGen UID:
337690
Concept ID:
C1846950
Finding
Synonyms: Brachymesophalangy; Hypoplastic middle phalanges; Midphalangeal hypoplasia; Short middle phalanges
 
HPO: HP:0005819

Definition

Short (hypoplastic) middle phalanx of finger, affecting one or more fingers. [from HPO]

Conditions with this feature

Metaphyseal chondrodysplasia, Schmid type
MedGen UID:
78550
Concept ID:
C0265289
Disease or Syndrome
Schmid metaphyseal chondrodysplasia (SMCD) is characterized by progressive short stature that develops by age two years. The clinical and radiographic features are usually not present at birth, but manifest in early childhood with short limbs, genu varum, and waddling gait. Facial features and head size are normal. Radiographs show metaphyseal irregularities of the long bones (e.g., splaying, flaring, cupping); shortening of the tubular bones; widened growth plates; coxa vara; and anterior cupping, sclerosis, and splaying of the ribs. Mild hand involvement often includes shortening of the tubular bones and metaphyseal cupping of the metacarpals and proximal phalanges. Platyspondyly and vertebral end-plate irregularities are less common. Hand and vertebral involvement can resolve with age. Early motor milestones may be delayed due to orthopedic complications. Intelligence is normal. Joint pain in the knees and hips is common and may limit physical activity. Adult height is typically more than 3.5 SD below the mean, although a wide spectrum that overlaps normal height has been reported. There are no extraskeletal manifestations.
Histidine transport defect
MedGen UID:
82825
Concept ID:
C0268642
Disease or Syndrome
A rare disorder of histidine metabolism characterized by histidinuria without histidinemia due to impaired intestinal and renal tubular absorption of histidine. Developmental delay, intellectual disability, seizures, and mild dysmorphic features have been reported in association. There have been no further descriptions in the literature since 1992.
Microcephalic osteodysplastic primordial dwarfism type II
MedGen UID:
96587
Concept ID:
C0432246
Disease or Syndrome
Microcephalic osteodysplastic primordial dwarfism type II (MOPDII), the most common form of microcephalic primordial dwarfism, is characterized by extreme short stature and microcephaly along with distinctive facial features. Associated features that differentiate it from other forms of primordial dwarfism and that may necessitate treatment include: abnormal dentition, a slender bone skeletal dysplasia with hip deformity and/or scoliosis, insulin resistance / diabetes mellitus, chronic kidney disease, cardiac malformations, and global vascular disease. The latter includes neurovascular disease such as moyamoya vasculopathy and intracranial aneurysms (which can lead to strokes), coronary artery disease (which can lead to premature myocardial infarctions), and renal vascular disease. Hypertension, which is also common, can have multiple underlying causes given the complex comorbidities.
Eiken syndrome
MedGen UID:
325097
Concept ID:
C1838779
Congenital Abnormality
Eiken syndrome (EKNS) is an autosomal recessive skeletal dysplasia characterized by delayed ossification of bones, epiphyseal dysplasia, and bone remodeling abnormalities. Type A1 brachydactyly (see 112500), supernumerary epiphyses of proximal phalanges and metacarpals, and failure of eruption of primary teeth have also been described. Defining radiologic features include delayed ossification of epiphyses and primary ossification centers of short tubular bones, modeling abnormalities of tubular bones, and angel-shaped phalanges (Jacob et al., 2019). See 603740 for a disorder with similar radiologic features.
Skeletal dysplasia-intellectual disability syndrome
MedGen UID:
326949
Concept ID:
C1839729
Disease or Syndrome
This syndrome combines skeletal anomalies (short stature, ridging of the metopic suture, fusion of cervical vertebrae, thoracic hemivertebrae, scoliosis, sacral hypoplasia and short middle phalanges) and mild intellectual deficit. It has been described in four male cousins in three sibships. Glucose intolerance was present in three cases, and imperforated anus in one case. Carrier females had minor manifestations (fusion of cervical vertebrae and glucose intolerance). Transmission seems to be X-linked.
Heart-hand syndrome type 3
MedGen UID:
333883
Concept ID:
C1841657
Disease or Syndrome
A very rare type of heart-hand syndrome described in three members of a Spanish family to date. The syndrome has characteristics of cardiac conduction defect (sick sinus, bundle-branch block) and brachydactyly, resembling brachydactyly type C of the hands, affecting principally the middle phalanges in conjunction with an extra ossicle on the proximal phalanx of both index fingers. Feet abnormalities are more subtle.
Acrocapitofemoral dysplasia
MedGen UID:
334681
Concept ID:
C1843096
Disease or Syndrome
Acrocapitofemoral dysplasia (ACFD) is an autosomal recessive skeletal dysplasia characterized by postnatal-onset disproportionate short stature, relatively large head, narrow thorax, lumbar lordosis, short limbs, and brachydactyly with small broad nails (Ozyavuz Cubuk and Duz, 2021).
Brachydactyly type A1B
MedGen UID:
339652
Concept ID:
C1846949
Disease or Syndrome
Symphalangism, distal, with microdontia, dental pulp stones, and narrowed zygomatic arch
MedGen UID:
376067
Concept ID:
C1847185
Disease or Syndrome
Familial digital arthropathy-brachydactyly
MedGen UID:
335678
Concept ID:
C1847406
Disease or Syndrome
The autosomal dominant TRPV4 disorders (previously considered to be clinically distinct phenotypes before their molecular basis was discovered) are now grouped into neuromuscular disorders and skeletal dysplasias; however, the overlap within each group is considerable. Affected individuals typically have either neuromuscular or skeletal manifestations alone, and in only rare instances an overlap syndrome has been reported. The three autosomal dominant neuromuscular disorders (mildest to most severe) are: Charcot-Marie-Tooth disease type 2C. Scapuloperoneal spinal muscular atrophy. Congenital distal spinal muscular atrophy. The autosomal dominant neuromuscular disorders are characterized by a congenital-onset, static, or later-onset progressive peripheral neuropathy with variable combinations of laryngeal dysfunction (i.e., vocal fold paresis), respiratory dysfunction, and joint contractures. The six autosomal dominant skeletal dysplasias (mildest to most severe) are: Familial digital arthropathy-brachydactyly. Autosomal dominant brachyolmia. Spondylometaphyseal dysplasia, Kozlowski type. Spondyloepiphyseal dysplasia, Maroteaux type. Parastremmatic dysplasia. Metatropic dysplasia. The skeletal dysplasia is characterized by brachydactyly (in all 6); the five that are more severe have short stature that varies from mild to severe with progressive spinal deformity and involvement of the long bones and pelvis. In the mildest of the autosomal dominant TRPV4 disorders life span is normal; in the most severe it is shortened. Bilateral progressive sensorineural hearing loss (SNHL) can occur with both autosomal dominant neuromuscular disorders and skeletal dysplasias.
Saldino-Mainzer syndrome
MedGen UID:
341455
Concept ID:
C1849437
Disease or Syndrome
Short-rib thoracic dysplasia (SRTD) with or without polydactyly refers to a group of autosomal recessive skeletal ciliopathies that are characterized by a constricted thoracic cage, short ribs, shortened tubular bones, and a 'trident' appearance of the acetabular roof. SRTD encompasses Ellis-van Creveld syndrome (EVC) and the disorders previously designated as Jeune syndrome or asphyxiating thoracic dystrophy (ATD), short rib-polydactyly syndrome (SRPS), and Mainzer-Saldino syndrome (MZSDS). Polydactyly is variably present, and there is phenotypic overlap in the various forms of SRTDs, which differ by visceral malformation and metaphyseal appearance. Nonskeletal involvement can include cleft lip/palate as well as anomalies of major organs such as the brain, eye, heart, kidneys, liver, pancreas, intestines, and genitalia. Some forms of SRTD are lethal in the neonatal period due to respiratory insufficiency secondary to a severely restricted thoracic cage, whereas others are compatible with life (summary by Huber and Cormier-Daire, 2012 and Schmidts et al., 2013). There is phenotypic overlap with the cranioectodermal dysplasias (Sensenbrenner syndrome; see CED1, 218330). For a discussion of genetic heterogeneity of short-rib thoracic dysplasia, see SRTD1 (208500).
Atelosteogenesis type II
MedGen UID:
338072
Concept ID:
C1850554
Disease or Syndrome
Clinical features of atelosteogenesis type 2 (AO2) include rhizomelic limb shortening with normal-sized skull, hitchhiker thumbs, small chest, protuberant abdomen, cleft palate, and distinctive facial features (midface retrusion, depressed nasal bridge, epicanthus, micrognathia). Other typical findings are ulnar deviation of the fingers, gap between the first and second toes, and clubfoot. AO2 is usually lethal at birth or shortly thereafter due to pulmonary hypoplasia and tracheobronchomalacia. However, it exists in a continuous phenotypic spectrum with diastrophic dysplasia, and long-term survivors have been reported.
Wiedemann-Steiner syndrome
MedGen UID:
340266
Concept ID:
C1854630
Disease or Syndrome
Wiedemann-Steiner syndrome (WSS) is characterized by developmental delay, intellectual disability, and characteristic facial features, with or without additional congenital anomalies. The facial features include thick eyebrows with lateral flare, vertically narrow and downslanted palpebral fissures, widely spaced eyes, long eyelashes, wide nasal bridge, broad nasal tip, thin vermilion of the upper lip, and thick scalp hair. About 60% of affected individuals have hypertrichosis cubiti ("hairy elbows"), which was once thought to be pathognomic for the syndrome, with a majority having hypertrichosis of other body parts. Other clinical features include feeding difficulties, prenatal and postnatal growth restriction, epilepsy, ophthalmologic anomalies, congenital heart defects, hand anomalies (such as brachydactyly and clinodactyly), hypotonia, vertebral anomalies (especially fusion anomalies of the cervical spine), renal and uterine anomalies, immune dysfunction, brain malformations, and dental anomalies.
Brachydactyly type B1
MedGen UID:
349432
Concept ID:
C1862112
Congenital Abnormality
A rare subtype of brachydactyly type B characterized by hypoplasia or aplasia of the distal phalanges of digits 2-5 with or without nail dysplasia, in association with fusion of the middle and distal phalanges, a broad or bifid thumb, and occasionally distal and proximal symphalangism or syndactyly. The feet are less severely affected than the hands.
Muenke syndrome
MedGen UID:
355217
Concept ID:
C1864436
Disease or Syndrome
Muenke syndrome is defined by the presence of the specific FGFR3 pathogenic variant – c.749C>G – that results in the protein change p.Pro250Arg. Muenke syndrome is characterized by considerable phenotypic variability: features may include coronal synostosis (more often bilateral than unilateral); synostosis of other sutures, all sutures (pan synostosis), or no sutures; or macrocephaly. Bilateral coronal synostosis typically results in brachycephaly (reduced anteroposterior dimension of the skull), although turribrachycephaly (a "tower-shaped" skull) or a cloverleaf skull can be observed. Unilateral coronal synostosis results in anterior plagiocephaly (asymmetry of the skull and face). Other craniofacial findings typically include: temporal bossing; widely spaced eyes, ptosis or proptosis (usually mild); midface retrusion (usually mild); and highly arched palate or cleft lip and palate. Strabismus is common. Other findings can include: hearing loss (in 33%-100% of affected individuals); developmental delay (~33%); epilepsy; intracranial anomalies; intellectual disability; carpal bone and/or tarsal bone fusions; brachydactyly, broad toes, broad thumbs, and/or clinodactyly; and radiographic findings of thimble-like (short and broad) middle phalanges and/or cone-shaped epiphyses. Phenotypic variability is considerable even within the same family. Of note, some individuals who have the p.Pro250Arg pathogenic variant may have no signs of Muenke syndrome on physical or radiographic examination.
Microphthalmia with brain and digit anomalies
MedGen UID:
355268
Concept ID:
C1864689
Disease or Syndrome
This syndrome has characteristics of anophthalmia or microphthalmia, retinal dystrophy, and/or myopia, associated in some cases with cerebral anomalies. It has been described in two families. Polydactyly may also be present. Linkage analysis allowed identification of mutations in the BMP4 gene, which has already been shown to play a role in eye development.
Skeletal dysplasia with delayed epiphyseal and carpal bone ossification
MedGen UID:
356650
Concept ID:
C1866939
Disease or Syndrome
Intellectual disability, autosomal dominant 1
MedGen UID:
409857
Concept ID:
C1969562
Mental or Behavioral Dysfunction
MBD5 haploinsufficiency is a neurodevelopmental disorder characterized by developmental delay, intellectual disability, severe speech impairment, seizures, sleep disturbances, and abnormal behaviors. Most children lack speech entirely or have single words, short phrases, or short sentences. Seizures are present in more than 80% of children; onset is usually around age two years. Sleep disturbances, present in about 90%, can result in excessive daytime drowsiness. Abnormal behaviors can include autistic-like behaviors (80%) and self-injury and aggression (>60%).
Chromosome 15q26-qter deletion syndrome
MedGen UID:
390804
Concept ID:
C2675463
Disease or Syndrome
Distal monosomy 15q is a rare chromosomal anomaly syndrome characterized by pre- and postnatal growth restriction, developmental delay, variable degrees of intellectual disability, hand and foot anomalies (e.g. brachy-/clinodactyly, talipes equinovarus, nail hypoplasia, proximally placed digits) and mild craniofacial dysmorphism (incl. microcephaly, triangular face, broad nasal bridge, micrognathia). Neonatal lymphedema, heart malformations, aplasia cutis congenita, aortic root dilatation, and autistic spectrum disorder have also been reported.
Seckel syndrome 5
MedGen UID:
462537
Concept ID:
C3151187
Disease or Syndrome
Seckel syndrome is an autosomal recessive disorder characterized by proportionate short stature, severe microcephaly, mental retardation, and a typical 'bird-head' facial appearance (summary by Kalay et al., 2011). For a general phenotypic description and a discussion of genetic heterogeneity of Seckel syndrome, see 210600.
Adams-Oliver syndrome 2
MedGen UID:
481812
Concept ID:
C3280182
Disease or Syndrome
Adams-Oliver syndrome (AOS) is characterized by aplasia cutis congenita (ACC) of the scalp and terminal transverse limb defects (TTLD). ACC lesions usually occur in the midline of the parietal or occipital regions, but can also occur on the abdomen or limbs. At birth, an ACC lesion may already have the appearance of a healed scar. ACC lesions less than 5 cm often involve only the skin and almost always heal over a period of months; larger lesions are more likely to involve the skull and possibly the dura, and are at greater risk for complications, which can include infection, hemorrhage, or thrombosis, and can result in death. The limb defects range from mild (unilateral or bilateral short distal phalanges) to severe (complete absence of all toes or fingers, feet or hands, or more, often resembling an amputation). The lower extremities are almost always more severely affected than the upper extremities. Additional major features frequently include cardiovascular malformations/dysfunction (23%), brain anomalies, and less frequently renal, liver, and eye anomalies.
Meier-Gorlin syndrome 6
MedGen UID:
905079
Concept ID:
C4225188
Disease or Syndrome
Any Meier-Gorlin syndrome in which the cause of the disease is a mutation in the GMNN gene.
X-linked intellectual disability, van Esch type
MedGen UID:
930741
Concept ID:
C4305072
Disease or Syndrome
Van Esch-O'Driscoll syndrome (VEODS) is characterized by varying degrees of intellectual disability, moderate to severe short stature, microcephaly, hypogonadism, and variable congenital malformations (Van Esch et al., 2019).
Feingold syndrome type 1
MedGen UID:
1637716
Concept ID:
C4551774
Disease or Syndrome
Feingold syndrome 1 (referred to as FS1 in this GeneReview) is characterized by digital anomalies (shortening of the 2nd and 5th middle phalanx of the hand, clinodactyly of the 5th finger, syndactyly of toes 2-3 and/or 4-5, thumb hypoplasia), microcephaly, facial dysmorphism (short palpebral fissures and micrognathia), gastrointestinal atresias (primarily esophageal and/or duodenal), and mild-to-moderate learning disability.
Anauxetic dysplasia 3
MedGen UID:
1718444
Concept ID:
C5394289
Disease or Syndrome
Anauxetic dysplasia-3 (ANXD3) is characterized by severe short stature, brachydactyly, skin laxity, joint hypermobility, and joint dislocations. Radiographs show short metacarpals, broad middle phalanges, and metaphyseal irregularities. Most patients also exhibit motor and cognitive delays (Narayanan et al., 2019). For a discussion of genetic heterogeneity of anauxetic dysplasia, see ANXD1 (607095).
Orofaciodigital syndrome 18
MedGen UID:
1799326
Concept ID:
C5567903
Disease or Syndrome
Orofaciodigital syndrome-18 is characterized by short stature, brachymesophalangy, pre- and postaxial polysyndactyly, and stocky femoral necks, as well as oral anomalies and dysmorphic facial features (Thevenon et al., 2016).

Professional guidelines

PubMed

Zhang X, Shao X, Zhang Z, Zhang G, Yu Y, Wang L, Lyu L
Injury 2018 Feb;49(2):351-358. Epub 2017 Oct 9 doi: 10.1016/j.injury.2017.10.012. PMID: 29055495
Goorens CK, Van Hoonacker P, Kerckhove D, Berghs B, Goubau J
Acta Orthop Belg 2012 Aug;78(4):473-8. PMID: 23019779
Fischer MD, McElfresh EC
Hand Clin 1994 May;10(2):287-301. PMID: 8040207

Recent clinical studies

Etiology

Liu B, Pan D, Gao Z, Duan P, Ou Q
J Orthop Surg Res 2023 Sep 28;18(1):737. doi: 10.1186/s13018-023-04231-4. PMID: 37770926Free PMC Article
Sentchordi-Montané L, Benito-Sanz S, Aza-Carmona M, Pereda A, Parrón-Pajares M, de la Torre C, Vasques GA, Funari MFA, Travessa AM, Dias P, Suarez-Ortega L, González-Buitrago J, Portillo-Najera NE, Llano-Rivas I, Martín-Frías M, Ramírez-Fernández J, Sánchez Del Pozo J, Garzón-Lorenzo L, Martos-Moreno GA, Alfaro-Iznaola C, Mulero-Collantes I, Ruiz-Ocaña P, Casano-Sancho P, Portela A, Ruiz-Pérez L, Del Pozo A, Vallespín E, Solís M, Lerario AM, González-Casado I, Ros-Pérez P, Pérez de Nanclares G, Jorge AAL, Heath KE
J Clin Endocrinol Metab 2020 Aug 1;105(8) doi: 10.1210/clinem/dgaa218. PMID: 32311039
Jernigan EW 3rd, Honeycutt PB, Patterson JMM, Rummings WA Jr, Bynum DK, Draeger RW
J Hand Surg Am 2018 Dec;43(12):1138.e1-1138.e8. Epub 2018 May 22 doi: 10.1016/j.jhsa.2018.04.011. PMID: 29801935
Zhang X, Shao X, Zhang Z, Zhang G, Yu Y, Wang L, Lyu L
Injury 2018 Feb;49(2):351-358. Epub 2017 Oct 9 doi: 10.1016/j.injury.2017.10.012. PMID: 29055495
Freeland AE, Lindley SG
Hand Clin 2006 Aug;22(3):341-55. doi: 10.1016/j.hcl.2006.03.001. PMID: 16843800

Diagnosis

Holmes LB, Nasri HZ
Am J Med Genet A 2022 Nov;188(11):3236-3241. Epub 2022 Sep 8 doi: 10.1002/ajmg.a.62941. PMID: 36073773
Umana GE, Scalia G, Palmisciano P, Passanisi M, Da Ros V, Pompili G, Barone F, Amico P, Tomasi SO, Graziano F, Patti IV, Mele S, Maugeri R, Raffa G, Giammalva GR, Iacopino GD, Germanò A, Nicoletti GF, Ippolito M, Sabini MG, Cicero S, Strigari L, Cuttone G
Medicina (Kaunas) 2021 Sep 9;57(9) doi: 10.3390/medicina57090950. PMID: 34577873Free PMC Article
Sentchordi-Montané L, Benito-Sanz S, Aza-Carmona M, Pereda A, Parrón-Pajares M, de la Torre C, Vasques GA, Funari MFA, Travessa AM, Dias P, Suarez-Ortega L, González-Buitrago J, Portillo-Najera NE, Llano-Rivas I, Martín-Frías M, Ramírez-Fernández J, Sánchez Del Pozo J, Garzón-Lorenzo L, Martos-Moreno GA, Alfaro-Iznaola C, Mulero-Collantes I, Ruiz-Ocaña P, Casano-Sancho P, Portela A, Ruiz-Pérez L, Del Pozo A, Vallespín E, Solís M, Lerario AM, González-Casado I, Ros-Pérez P, Pérez de Nanclares G, Jorge AAL, Heath KE
J Clin Endocrinol Metab 2020 Aug 1;105(8) doi: 10.1210/clinem/dgaa218. PMID: 32311039
Duelund N, Hougaard K
Int J Circumpolar Health 2016;75:31285. Epub 2016 Apr 5 doi: 10.3402/ijch.v75.31285. PMID: 27052154Free PMC Article
Başar H, Başar B, Başçı O, Topkar OM, Erol B, Tetik C
Arch Orthop Trauma Surg 2015 Apr;135(4):499-504. Epub 2015 Feb 15 doi: 10.1007/s00402-015-2164-3. PMID: 25682110

Therapy

Shimbo K, Kawamoto H, Koshima I
Ann Plast Surg 2022 Nov 1;89(5):573-580. Epub 2022 May 28 doi: 10.1097/SAP.0000000000003208. PMID: 35703249
Hamilton LC
J Hand Surg Asian Pac Vol 2018 Dec;23(4):441-449. doi: 10.1142/S2424835518300037. PMID: 30428786
Vasques GA, Funari MFA, Ferreira FM, Aza-Carmona M, Sentchordi-Montané L, Barraza-García J, Lerario AM, Yamamoto GL, Naslavsky MS, Duarte YAO, Bertola DR, Heath KE, Jorge AAL
J Clin Endocrinol Metab 2018 Feb 1;103(2):604-614. doi: 10.1210/jc.2017-02026. PMID: 29155992
Aimola E, Valle MS, Casabona A
PLoS One 2014;9(10):e109067. Epub 2014 Oct 1 doi: 10.1371/journal.pone.0109067. PMID: 25271638Free PMC Article
Freeland AE, Lindley SG
Hand Clin 2006 Aug;22(3):341-55. doi: 10.1016/j.hcl.2006.03.001. PMID: 16843800

Prognosis

Umana GE, Scalia G, Palmisciano P, Passanisi M, Da Ros V, Pompili G, Barone F, Amico P, Tomasi SO, Graziano F, Patti IV, Mele S, Maugeri R, Raffa G, Giammalva GR, Iacopino GD, Germanò A, Nicoletti GF, Ippolito M, Sabini MG, Cicero S, Strigari L, Cuttone G
Medicina (Kaunas) 2021 Sep 9;57(9) doi: 10.3390/medicina57090950. PMID: 34577873Free PMC Article
Completo A, Nascimento A, Girão AF, Fonseca F
Clin Biomech (Bristol, Avon) 2018 Feb;52:72-78. Epub 2018 Feb 3 doi: 10.1016/j.clinbiomech.2018.01.005. PMID: 29407860
Zhang X, Shao X, Zhang Z, Zhang G, Yu Y, Wang L, Lyu L
Injury 2018 Feb;49(2):351-358. Epub 2017 Oct 9 doi: 10.1016/j.injury.2017.10.012. PMID: 29055495
Aimola E, Valle MS, Casabona A
PLoS One 2014;9(10):e109067. Epub 2014 Oct 1 doi: 10.1371/journal.pone.0109067. PMID: 25271638Free PMC Article
Bouxsein ML, Michaeli DA, Plass DB, Schick DA, Melton ME
Osteoporos Int 1997;7(5):444-9. doi: 10.1007/s001980050031. PMID: 9425502

Clinical prediction guides

Toyama T, Hamada Y, Horii E, Kinoshita R, Saito T
J Hand Surg Asian Pac Vol 2021 Jun;26(2):235-239. doi: 10.1142/S2424835521500247. PMID: 33928851
Reid AWN, Sood MK
J Hand Surg Asian Pac Vol 2021 Jun;26(2):180-187. doi: 10.1142/S2424835521500168. PMID: 33928848
Sentchordi-Montané L, Benito-Sanz S, Aza-Carmona M, Pereda A, Parrón-Pajares M, de la Torre C, Vasques GA, Funari MFA, Travessa AM, Dias P, Suarez-Ortega L, González-Buitrago J, Portillo-Najera NE, Llano-Rivas I, Martín-Frías M, Ramírez-Fernández J, Sánchez Del Pozo J, Garzón-Lorenzo L, Martos-Moreno GA, Alfaro-Iznaola C, Mulero-Collantes I, Ruiz-Ocaña P, Casano-Sancho P, Portela A, Ruiz-Pérez L, Del Pozo A, Vallespín E, Solís M, Lerario AM, González-Casado I, Ros-Pérez P, Pérez de Nanclares G, Jorge AAL, Heath KE
J Clin Endocrinol Metab 2020 Aug 1;105(8) doi: 10.1210/clinem/dgaa218. PMID: 32311039
Tang JB
Plast Reconstr Surg 2018 Jun;141(6):1427-1437. doi: 10.1097/PRS.0000000000004416. PMID: 29579022
Frydman M, Katz M, Cabot SG, Soen G, Kauschansky A, Sirota L
Am J Med Genet 1997 Aug 22;71(3):251-7. doi: 10.1002/(sici)1096-8628(19970822)71:3<251::aid-ajmg1>3.0.co;2-x. PMID: 9268091

Recent systematic reviews

Shimbo K, Kawamoto H, Koshima I
Ann Plast Surg 2022 Nov 1;89(5):573-580. Epub 2022 May 28 doi: 10.1097/SAP.0000000000003208. PMID: 35703249
Umana GE, Scalia G, Palmisciano P, Passanisi M, Da Ros V, Pompili G, Barone F, Amico P, Tomasi SO, Graziano F, Patti IV, Mele S, Maugeri R, Raffa G, Giammalva GR, Iacopino GD, Germanò A, Nicoletti GF, Ippolito M, Sabini MG, Cicero S, Strigari L, Cuttone G
Medicina (Kaunas) 2021 Sep 9;57(9) doi: 10.3390/medicina57090950. PMID: 34577873Free PMC Article
Reid AWN, Sood MK
J Hand Surg Asian Pac Vol 2021 Jun;26(2):180-187. doi: 10.1142/S2424835521500168. PMID: 33928848
Hamilton LC
J Hand Surg Asian Pac Vol 2018 Dec;23(4):441-449. doi: 10.1142/S2424835518300037. PMID: 30428786

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