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Ectodermal dysplasia

MedGen UID:
8544
Concept ID:
C0013575
Congenital Abnormality; Disease or Syndrome
Synonyms: Congenital Ectodermal Defect; Congenital Ectodermal Defects; Defect, Congenital Ectodermal; Defects, Congenital Ectodermal; Dysplasia, Ectodermal; Dysplasias, Ectodermal; Ectodermal Defect, Congenital; Ectodermal Defects, Congenital; Ectodermal Dysplasia; Ectodermal Dysplasias
SNOMED CT: Ectodermal dysplasia (8654005); Congenital ectodermal defect (254154003)
 
HPO: HP:0000968
Orphanet: ORPHA79373

Definition

Ectodermal dysplasia is a group of conditions in which there is abnormal development of the skin, hair, nails, teeth, or sweat glands. [from HPO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVEctodermal dysplasia
Follow this link to review classifications for Ectodermal dysplasia in Orphanet.

Conditions with this feature

Chondroectodermal dysplasia
MedGen UID:
8584
Concept ID:
C0013903
Disease or Syndrome
Ellis-van Creveld syndrome is an autosomal recessive skeletal dysplasia characterized by short limbs, short ribs, postaxial polydactyly, and dysplastic nails and teeth. Congenital cardiac defects, most commonly a defect of primary atrial septation producing a common atrium, occur in 60% of affected individuals (summary by Ruiz-Perez et al., 2000). The clinical features of the Ellis-van Creveld syndrome appear to be identical regardless of whether the disorder is caused by mutation in the EVC gene (604831) or in the EVC2 gene (607261) (Ruiz-Perez et al., 2003, Galdzicka et al., 2002).
Hidrotic ectodermal dysplasia syndrome
MedGen UID:
56416
Concept ID:
C0162361
Congenital Abnormality
Hidrotic ectodermal dysplasia 2, or Clouston syndrome (referred to as HED2 throughout this GeneReview) is characterized by partial or total alopecia, dystrophy of the nails, hyperpigmentation of the skin (especially over the joints), and clubbing of the fingers. Sparse scalp hair and dysplastic nails are seen early in life. In infancy, scalp hair is wiry, brittle, patchy, and pale; progressive hair loss may lead to total alopecia by puberty. The nails may be milky white in early childhood; they gradually become dystrophic, thick, and distally separated from the nail bed. Palmoplantar keratoderma may develop during childhood and increases in severity with age. The clinical manifestations are highly variable even within the same family.
Acrorenal field defect, ectodermal dysplasia, and lipoatrophic diabetes
MedGen UID:
87435
Concept ID:
C0342280
Congenital Abnormality
Basan syndrome
MedGen UID:
140808
Concept ID:
C0406707
Congenital Abnormality
Complete congenital absence of dermatoglyphs is a rare syndrome characterized by autosomal dominant inheritance of the lack of ridges on palms and soles, neonatal acral blisters and facial milia, adult traumatic blistering and fissuring, absent or reduced sweating of palms and soles, and contracture of digits. Additional features may include single palmar transverse crease, palmoplantar keratoderma, and nail grooving (summary by Limova et al., 1993).
Odontotrichomelic syndrome
MedGen UID:
98034
Concept ID:
C0406723
Congenital Abnormality
The GAPO syndrome is the acronymic designation for a complex of growth retardation, alopecia, pseudoanodontia (failure of tooth eruption), and progressive optic atrophy (Tipton and Gorlin, 1984). Ilker et al. (1999) noted that optic atrophy is not a consistent feature of this disorder.
Cranioectodermal dysplasia 1
MedGen UID:
96586
Concept ID:
C0432235
Congenital Abnormality
Cranioectodermal dysplasia is a disorder that affects many parts of the body. The most common features involve bone abnormalities and abnormal development of certain tissues known as ectodermal tissues, which include the skin, hair, nails, and teeth. The signs and symptoms of this condition vary among affected individuals, even among members of the same family.Distinctive abnormalities of the skull and face are common in people with cranioectodermal dysplasia. Most affected individuals have a prominent forehead (frontal bossing) and an elongated head (dolichocephaly) due to abnormal fusion of certain skull bones (sagittal craniosynostosis). A variety of facial abnormalities can occur in people with this condition; these include low-set ears that may also be rotated backward, an increased distance between the inner corners of the eyes (telecanthus), and outside corners of the eyes that point upward or downward (upslanting or downslanting palpebral fissures) among others.Development of bones in the rest of the skeleton is also affected in this condition. Abnormalities in the long bones of the arms and legs (metaphyseal dysplasia) lead to short limbs and short stature. In addition, affected individuals often have short fingers (brachydactyly). Some people with this condition have short rib bones and a narrow rib cage, which can cause breathing problems, especially in affected newborns.Abnormal development of ectodermal tissues in people with cranioectodermal dysplasia can lead to sparse hair, small or missing teeth, short fingernails and toenails, and loose skin.Cranioectodermal dysplasia can affect additional organs and tissues in the body. A kidney disorder known as nephronophthisis occurs in many people with this condition, and it can lead to a life-threatening failure of kidney function known as end-stage renal disease. Abnormalities of the liver, heart, or eyes also occur in people with cranioectodermal dysplasia.
Autosomal dominant hypohidrotic ectodermal dysplasia
MedGen UID:
314095
Concept ID:
C1720965
Disease or Syndrome
Hypohidrotic ectodermal dysplasia (HED) is characterized by hypotrichosis (sparseness of scalp and body hair), hypohidrosis (reduced ability to sweat), and hypodontia (congenital absence of teeth). The cardinal features of HED become obvious during childhood. The scalp hair is thin, lightly pigmented, and slow-growing. Sweating, although present, is greatly deficient, leading to episodes of hyperthermia until the affected individual or family acquires experience with environmental modifications to control temperature. Only a few abnormally formed teeth erupt, and at a later than average age. Physical growth and psychomotor development are otherwise within normal limits.
Congenital ectodermal dysplasia of face
MedGen UID:
315643
Concept ID:
C1744559
Congenital Abnormality
The focal dermal dysplasias (FFDDs) are a group of related developmental defects characterized by bitemporal or preauricular skin lesions resembling aplasia cutis congenita. FFFD3 is an autosomal recessive disorder characterized by bitemporal skin lesions with variable facial findings, including thin and puckered periorbital skin, distichiasis and/or absent eyelashes, upslanting palpebral fissures, a flat nasal bridge with a broad nasal tip, large lips, and redundant facial skin (summary by Slavotinek et al., 2013). FFDD2 (614973) is characterized by the same facial features as FFDD3, but the inheritance is autosomal dominant. For a classification and a discussion of genetic heterogeneity of FFDD, see FFDD1 (136500).
Ectodermal dysplasia with natal teeth Turnpenny type
MedGen UID:
371331
Concept ID:
C1832444
Disease or Syndrome
Ectodermal dysplasia mental retardation syndactyly
MedGen UID:
322135
Concept ID:
C1833169
Disease or Syndrome
IFAP syndrome with or without BRESHECK syndrome
MedGen UID:
327007
Concept ID:
C1839988
Disease or Syndrome
The IFAP/BRESHECK syndrome is an X-linked multiple congenital anomaly disorder with variable severity. The classic triad, which defines IFAP, is ichthyosis follicularis, atrichia, and photophobia. Some patients have additional features, including mental retardation, brain anomalies, Hirschsprung disease, corneal opacifications, kidney dysplasia, cryptorchidism, cleft palate, and skeletal malformations, particularly of the vertebrae, which constitutes BRESHECK syndrome (summary by Naiki et al., 2012).
Contractures ectodermal dysplasia cleft lip palate
MedGen UID:
375546
Concept ID:
C1844935
Disease or Syndrome
Ectodermal dysplasia, anhidrotic, with immunodeficiency, osteopetrosis, and lymphedema
MedGen UID:
337348
Concept ID:
C1845919
Disease or Syndrome
Osteopetrosis is a bone disease that makes bones abnormally dense and prone to breakage (fracture). Researchers have described several major types of osteopetrosis, which are usually distinguished by their pattern of inheritance: autosomal dominant, autosomal recessive, or X-linked. The different types of the disorder can also be distinguished by the severity of their signs and symptoms.Autosomal dominant osteopetrosis (ADO), which is also called Albers-Schönberg disease, is typically the mildest type of the disorder. Some affected individuals have no symptoms. In these people, the unusually dense bones may be discovered by accident when an x-ray is done for another reason. In affected individuals who develop signs and symptoms, the major features of the condition include multiple bone fractures, abnormal side-to-side curvature of the spine (scoliosis) or other spinal abnormalities, arthritis in the hips, and a bone infection called osteomyelitis. These problems usually become apparent in late childhood or adolescence.Autosomal recessive osteopetrosis (ARO) is a more severe form of the disorder that becomes apparent in early infancy. Affected individuals have a high risk of bone fracture resulting from seemingly minor bumps and falls. Their abnormally dense skull bones pinch nerves in the head and face (cranial nerves), often resulting in vision loss, hearing loss, and paralysis of facial muscles. Dense bones can also impair the function of bone marrow, preventing it from producing new blood cells and immune system cells. As a result, people with severe osteopetrosis are at risk of abnormal bleeding, a shortage of red blood cells (anemia), and recurrent infections. In the most severe cases, these bone marrow abnormalities can be life-threatening in infancy or early childhood.Other features of autosomal recessive osteopetrosis can include slow growth and short stature, dental abnormalities, and an enlarged liver and spleen (hepatosplenomegaly). Depending on the genetic changes involved, people with severe osteopetrosis can also have brain abnormalities, intellectual disability, or recurrent seizures (epilepsy).A few individuals have been diagnosed with intermediate autosomal osteopetrosis (IAO), a form of the disorder that can have either an autosomal dominant or an autosomal recessive pattern of inheritance. The signs and symptoms of this condition become noticeable in childhood and include an increased risk of bone fracture and anemia. People with this form of the disorder typically do not have life-threatening bone marrow abnormalities. However, some affected individuals have had abnormal calcium deposits (calcifications) in the brain, intellectual disability, and a form of kidney disease called renal tubular acidosis.Rarely, osteopetrosis can have an X-linked pattern of inheritance. In addition to abnormally dense bones, the X-linked form of the disorder is characterized by abnormal swelling caused by a buildup of fluid (lymphedema) and a condition called anhydrotic ectodermal dysplasia that affects the skin, hair, teeth, and sweat glands. Affected individuals also have a malfunctioning immune system (immunodeficiency), which allows severe, recurrent infections to develop. Researchers often refer to this condition as OL-EDA-ID, an acronym derived from each of the major features of the disorder.
Hypohidrotic ectodermal dysplasia with immune deficiency
MedGen UID:
375786
Concept ID:
C1846006
Disease or Syndrome
Hypohidrotic ectodermal dysplasia (HED; 305100), a congenital disorder of teeth, hair, and eccrine sweat glands, is usually inherited as an X-linked recessive trait, although rarer autosomal dominant (129490) and autosomal recessive (224900) forms exist.
Trichoodontoonychial dysplasia
MedGen UID:
376429
Concept ID:
C1848744
Disease or Syndrome
Rodrigues blindness
MedGen UID:
340297
Concept ID:
C1849332
Disease or Syndrome
Pilodental dysplasia with refractive errors
MedGen UID:
376661
Concept ID:
C1849805
Disease or Syndrome
Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 1
MedGen UID:
343663
Concept ID:
C1851841
Disease or Syndrome
Ectrodactyly and ectodermal dysplasia without cleft lip/palate
MedGen UID:
377536
Concept ID:
C1851849
Disease or Syndrome
Tuffli Laxova syndrome
MedGen UID:
342106
Concept ID:
C1851850
Disease or Syndrome
Ectodermal dysplasia syndrome with distinctive facial appearance and preaxial polydactyly of feet
MedGen UID:
342107
Concept ID:
C1851851
Disease or Syndrome
Ectodermal dysplasia trichoodontoonychial type
MedGen UID:
338798
Concept ID:
C1851858
Disease or Syndrome
Dermoodontodysplasia
MedGen UID:
377602
Concept ID:
C1852144
Disease or Syndrome
EEM syndrome
MedGen UID:
341679
Concept ID:
C1857041
Disease or Syndrome
Schopf-Schulz-Passarge syndrome
MedGen UID:
347366
Concept ID:
C1857069
Disease or Syndrome
Deafness conductive ptosis skeletal anomalies
MedGen UID:
347428
Concept ID:
C1857340
Disease or Syndrome
Ectodermal dysplasia skin fragility syndrome
MedGen UID:
388032
Concept ID:
C1858302
Disease or Syndrome
Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3
MedGen UID:
347666
Concept ID:
C1858562
Disease or Syndrome
Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome-3 (ECC3) is an autosomal dominant disorder comprising absence of the central parts of the hands and feet, resulting in split-hand/foot malformation, ectodermal dysplasia, and cleft lip with or without cleft palate (summary by Maas et al., 1996). Also see EEC1 (129900), which has been mapped to chromosome 7q11.
Cerebellar ataxia ectodermal dysplasia
MedGen UID:
347850
Concept ID:
C1859306
Disease or Syndrome
Anonychia-onychodystrophy with brachydactyly type B and ectrodactyly
MedGen UID:
400143
Concept ID:
C1862842
Disease or Syndrome
Anonychia ectrodactyly
MedGen UID:
354849
Concept ID:
C1862843
Disease or Syndrome
ADULT syndrome
MedGen UID:
400232
Concept ID:
C1863204
Disease or Syndrome
Ectodermal dysplasia, sensorineural hearing loss, and distinctive facial features
MedGen UID:
355878
Concept ID:
C1864966
Disease or Syndrome
Arthrogryposis and ectodermal dysplasia
MedGen UID:
355714
Concept ID:
C1866427
Disease or Syndrome
Immune dysfunction with T-cell inactivation due to calcium entry defect 1
MedGen UID:
440578
Concept ID:
C2748568
Disease or Syndrome
Immunodeficiency-9 is an autosomal recessive disorder characterized by early onset of recurrent infections due to defective T-cell activation. Affected individuals also have congenital myopathy resulting in muscle weakness as well as features of ectodermal dysplasia, including soft dental enamel (summary by McCarl et al., 2009).
Tetraamelia with ectodermal dysplasia and lacrimal duct abnormalities
MedGen UID:
413568
Concept ID:
C2749282
Disease or Syndrome
Cleft lip/palate-ectodermal dysplasia syndrome
MedGen UID:
444067
Concept ID:
C2931488
Disease or Syndrome
Ectodermal dysplasia-syndactyly syndrome 1
MedGen UID:
462157
Concept ID:
C3150807
Disease or Syndrome
Ectodermal dysplasia-syndactyly syndrome 2
MedGen UID:
462159
Concept ID:
C3150809
Disease or Syndrome
Cranioectodermal dysplasia 2
MedGen UID:
462224
Concept ID:
C3150874
Disease or Syndrome
Cranioectodermal dysplasia (CED), also known as Sensenbrenner syndrome, is a rare autosomal recessive heterogeneous ciliopathy that is primarily characterized by skeletal abnormalities, including craniosynostosis, narrow rib cage, short limbs, and brachydactyly, and ectodermal defects. Nephronophthisis leading to progressive renal failure, hepatic fibrosis, heart defects, and retinitis pigmentosa have also been described (summary by Arts et al., 2011). For a discussion of genetic heterogeneity of cranioectodermal dysplasia, see CED1 (218330).
Cranioectodermal dysplasia 3
MedGen UID:
481437
Concept ID:
C3279807
Disease or Syndrome
Cranioectodermal dysplasia (CED), also known as Sensenbrenner syndrome, is a rare autosomal recessive heterogeneous ciliopathy that is primarily characterized by skeletal abnormalities, including craniosynostosis, narrow rib cage, short limbs, and brachydactyly, and ectodermal defects. Nephronophthisis leading to progressive renal failure, hepatic fibrosis, heart defects, and retinitis pigmentosa have also been described (summary by Arts et al., 2011). For discussion of genetic heterogeneity of cranioectodermal dysplasia, see CED1 (218330).
Cranioectodermal dysplasia 4
MedGen UID:
482246
Concept ID:
C3280616
Disease or Syndrome
Cranioectodermal dysplasia (CED), also known as Sensenbrenner syndrome, is a rare autosomal recessive heterogeneous ciliopathy that is primarily characterized by skeletal abnormalities, including craniosynostosis, narrow rib cage, short limbs, and brachydactyly, and ectodermal defects. Nephronophthisis leading to progressive renal failure, hepatic fibrosis, heart defects, and retinitis pigmentosa have also been described (summary by Arts et al., 2011). For a discussion of genetic heterogeneity of cranioectodermal dysplasia, see CED1 (218330).
Ectodermal dysplasia 11b, hypohidrotic/hair/tooth type, autosomal recessive
MedGen UID:
761671
Concept ID:
C3539920
Disease or Syndrome
Some ectodermal dysplasias are here classified as congenital disorders characterized by abnormal development in 2 or more ectodermal structures (hair, nails, teeth, and sweat glands) without other systemic findings. Hypohidrotic, or anhidrotic, ectodermal dysplasia is characterized by a triad of signs comprising sparse hair (hypotrichosis), abnormal or missing teeth (anodontia or hypodontia), and inability to sweat (anhidrosis or hypohidrosis). Typical clinical manifestations also include dryness of the skin, eyes, airways, and mucous membranes presumably due to the defective development of several exocrine glands. Hypohidrotic ectodermal dysplasia can be associated with dysmorphic features (forehead bumps, rings under the eyes, everted nose, and prominent lips) and occasionally with absent nipples (summary by Cluzeau et al., 2011). For a discussion of genetic heterogeneity of hypohidrotic/anhidrotic ectodermal dysplasia, see 305100.
Ectodermal dysplasia 9, hair/nail type
MedGen UID:
767041
Concept ID:
C3554127
Disease or Syndrome
Some ectodermal dysplasias are here classified as congenital disorders characterized by abnormal development in 2 or more ectodermal structures (hair, nails, teeth, and sweat glands) without other systemic findings. Ectodermal dysplasia of the hair/nail type is a rare congenital condition characterized by hypotrichosis and nail dystrophy without nonectodermal or other ectodermal manifestations. Hypotrichosis usually occurs after birth with varying degrees of severity, ranging from mild hair loss to complete atrichia, including the loss of scalp hair, beard, eyebrows, eyelashes, axillary hair, and pubic hair. Nail dystrophy affects all 20 digits by causing short fragile nails or spoon nails (koilonychia) (summary by Lin et al., 2012).
Corneal intraepithelial dyskeratosis and ectodermal dysplasia
MedGen UID:
815206
Concept ID:
C3808876
Disease or Syndrome
Ectrodactyly-cleft palate syndrome
MedGen UID:
342105
Concept ID:
C1851848
Disease or Syndrome

Recent clinical studies

Etiology

Halai T, Stevens C
Dent Update 2015 Oct;42(8):779-80, 783-4, 787-8 passim. PMID: 26685476
Stecksén-Blicks C, Falk Kieri C, Hägg D, Schmitt-Egenolf M
BMC Med Genet 2015 Sep 4;16:79. doi: 10.1186/s12881-015-0227-5. [Epub ahead of print] PMID: 26336973Free PMC Article
Doğan MS, Callea M, Yavuz Ì, Aksoy O, Clarich G, Günay A, Günay A, Güven S, Maglione M, Akkuş Z
Med Oral Patol Oral Cir Bucal 2015 May 1;20(3):e340-6. [Epub ahead of print] PMID: 25662550Free PMC Article
Nakayama Y, Baba Y, Tsuji M, Fukuoka H, Ogawa T, Ohkuma M, Moriyama K
Congenit Anom (Kyoto) 2015 Feb;55(1):42-8. doi: 10.1111/cga.12073. PMID: 25181309
Fete M, Hermann J, Behrens J, Huttner KM
Am J Med Genet A 2014 Oct;164A(10):2437-42. Epub 2014 Mar 24 doi: 10.1002/ajmg.a.36436. [Epub ahead of print] PMID: 24664614

Diagnosis

Halai T, Stevens C
Dent Update 2015 Oct;42(8):779-80, 783-4, 787-8 passim. PMID: 26685476
Kennedy DP, Chandler JW, McCulley JP
Cont Lens Anterior Eye 2015 Jun;38(3):228-31. Epub 2015 Mar 11 doi: 10.1016/j.clae.2015.02.002. [Epub ahead of print] PMID: 25769661
Nakayama Y, Baba Y, Tsuji M, Fukuoka H, Ogawa T, Ohkuma M, Moriyama K
Congenit Anom (Kyoto) 2015 Feb;55(1):42-8. doi: 10.1111/cga.12073. PMID: 25181309
Fete M, Hermann J, Behrens J, Huttner KM
Am J Med Genet A 2014 Oct;164A(10):2437-42. Epub 2014 Mar 24 doi: 10.1002/ajmg.a.36436. [Epub ahead of print] PMID: 24664614
Carlberg VM, Lofgren SM, Mann JA, Austin JP, Nolt D, Shereck EB, Davila-Saldana B, Zonana J, Krol AL
Pediatr Dermatol 2014 Nov-Dec;31(6):716-21. Epub 2013 Feb 14 doi: 10.1111/pde.12103. [Epub ahead of print] PMID: 23405946

Therapy

Burian M, Velic A, Matic K, Günther S, Kraft B, Gonser L, Forchhammer S, Tiffert Y, Naumer C, Krohn M, Berneburg M, Yazdi AS, Maček B, Schittek B
J Invest Dermatol 2015 Mar;135(3):759-67. Epub 2014 Oct 27 doi: 10.1038/jid.2014.462. [Epub ahead of print] PMID: 25347115
Koyuncuoglu CZ, Metin S, Saylan I, Calısir K, Tuncer O, Kantarci A
J Oral Implantol 2014 Dec;40(6):714-21. doi: 10.1563/AAID-JOI-D-12-00072. PMID: 25506662
Klineberg I, Cameron A, Hobkirk J, Bergendal B, Maniere MC, King N, Watkins S, Hobson R, Stanford C, Kurtz K, Sharma A
Int J Oral Maxillofac Implants 2013 Jul-Aug;28(4):1101-9. PMID: 23869368
Klineberg I, Cameron A, Whittle T, Hobkirk J, Bergendal B, Maniere MC, King N, Palmer R, Hobson R, Stanford C, Kurtz K, Sharma A, Guckes A
Int J Oral Maxillofac Implants 2013 Jul-Aug;28(4):1090-100. PMID: 23869367
Callea M, Vinciguerra A, Willoughby CE, Deroma L, Clarich G
Ophthalmic Genet 2013 Mar-Jun;34(1-2):58-60. Epub 2012 Mar 19 doi: 10.3109/13816810.2012.666707. [Epub ahead of print] PMID: 22428923

Prognosis

Kutkut A, Abu-Eid R, Sharab L, Abadi B, Van Sickels J
J Int Acad Periodontol 2015 Apr;17(2):34-41. PMID: 26242009
Kennedy DP, Chandler JW, McCulley JP
Cont Lens Anterior Eye 2015 Jun;38(3):228-31. Epub 2015 Mar 11 doi: 10.1016/j.clae.2015.02.002. [Epub ahead of print] PMID: 25769661
Koyuncuoglu CZ, Metin S, Saylan I, Calısir K, Tuncer O, Kantarci A
J Oral Implantol 2014 Dec;40(6):714-21. doi: 10.1563/AAID-JOI-D-12-00072. PMID: 25506662
Sfeir E, Nassif N, Moukarzel C
Eur J Paediatr Dent 2014 Jul;15(2 Suppl):207-12. PMID: 25101504
Yoshioka T, Nishikomori R, Hara J, Okada K, Hashii Y, Okafuji I, Nodomi S, Kawai T, Izawa K, Ohnishi H, Yasumi T, Nakahata T, Heike T
J Clin Immunol 2013 Oct;33(7):1165-74. Epub 2013 Jul 18 doi: 10.1007/s10875-013-9924-z. [Epub ahead of print] PMID: 23864385

Clinical prediction guides

Habib R, Ansar M, Mattheisen M, Shahid M, Ali G, Ahmad W, Betz RC
PLoS One 2015;10(6):e0129811. Epub 2015 Jun 26 doi: 10.1371/journal.pone.0129811. PMID: 26115030Free PMC Article
Burian M, Velic A, Matic K, Günther S, Kraft B, Gonser L, Forchhammer S, Tiffert Y, Naumer C, Krohn M, Berneburg M, Yazdi AS, Maček B, Schittek B
J Invest Dermatol 2015 Mar;135(3):759-67. Epub 2014 Oct 27 doi: 10.1038/jid.2014.462. [Epub ahead of print] PMID: 25347115
Keklikci U, Yavuz I, Tunik S, Ulku ZB, Akdeniz S
Adv Clin Exp Med 2014 Jul-Aug;23(4):605-10. PMID: 25166446
Hadj-Rabia S, Jacob S, Dufresne H, Mashiah J, Vaivre-Douret L, Bodemer C
Am J Med Genet A 2014 Oct;164A(10):2461-4. Epub 2014 Aug 26 doi: 10.1002/ajmg.a.36519. [Epub ahead of print] PMID: 25159892
Dhima M, Salinas TJ, Cofer SA, Rieck KL
Int J Oral Maxillofac Surg 2014 Mar;43(3):301-4. Epub 2013 Sep 12 doi: 10.1016/j.ijom.2013.08.004. [Epub ahead of print] PMID: 24035129

Recent systematic reviews

Hadj-Rabia S, Jacob S, Dufresne H, Mashiah J, Vaivre-Douret L, Bodemer C
Am J Med Genet A 2014 Oct;164A(10):2461-4. Epub 2014 Aug 26 doi: 10.1002/ajmg.a.36519. [Epub ahead of print] PMID: 25159892
Morice-Picard F, Ezzedine K, Delrue MA, Arveiler B, Fergelot P, Taïeb A, Lacombe D, Boralevi F
Pediatr Dermatol 2013 Nov-Dec;30(6):665-73. doi: 10.1111/pde.12171. PMID: 24283439
Klineberg I, Cameron A, Hobkirk J, Bergendal B, Maniere MC, King N, Watkins S, Hobson R, Stanford C, Kurtz K, Sharma A
Int J Oral Maxillofac Implants 2013 Jul-Aug;28(4):1101-9. PMID: 23869368
Bidra AS, Martin JW, Feldman E
Compend Contin Educ Dent 2010 Jul-Aug;31(6):426-33; quiz 434, 444. PMID: 20712106
Ruhin B, Martinot V, Lafforgue P, Catteau B, Manouvrier-Hanu S, Ferri J
Cleft Palate Craniofac J 2001 Sep;38(5):504-18. doi: 10.1597/1545-1569(2001)038<0504:PEDRSO>2.0.CO;2. PMID: 11522173

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