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Prominent nose

MedGen UID:
98423
Concept ID:
C0426415
Finding
Synonyms: Big nose; Disproportionately large nose; Hyperplasia of nose; Hypertrophy of nose; Increased nasal size; Increased size of nose; Large nose; Nasal hyperplasia; Nasal hypertrophy; Pronounced nose
SNOMED CT: Large nose (249311009)
 
HPO: HP:0000448

Definition

Distance between subnasale and pronasale more than two standard deviations above the mean, or alternatively, an apparently increased anterior protrusion of the nasal tip. [from HPO]

Conditions with this feature

Bloom syndrome
MedGen UID:
2685
Concept ID:
C0005859
Congenital Abnormality
Bloom’s syndrome (BSyn) is characterized by severe pre- and postnatal growth deficiency, sparseness of subcutaneous fat tissue throughout infancy and early childhood, and short stature throughout postnatal life that in most affected individuals is accompanied by an erythematous and sun-sensitive skin lesion of the face. Gastroesophageal reflux (GER) is common and very possibly responsible for infections of the upper respiratory tract, the middle ear, and the lung that occur repeatedly in most persons with BSyn. Although most affected individuals have normal intellectual ability, many exhibit a poorly defined learning disability. Women may be fertile, but menopause occurs unusually early; men are infertile. Serious medical complications that are much more common than in the general population and that also appear at unusually early ages are chronic obstructive pulmonary disease, diabetes mellitus resembling the adult-onset type, and cancer of a wide variety of types and anatomic sites. BSyn occurs rarely in all national and ethnic groups but is relatively less rare in Ashkenazi Jews.
FG syndrome
MedGen UID:
113106
Concept ID:
C0220769
Disease or Syndrome
The phenotypic spectrum of MED12-related disorders, which is still being defined, includes at a minimum the phenotypes of FG syndrome type 1 (FGS1), Lujan syndrome (LS), and X-linked Ohdo syndrome. FGS1 and LS share the clinical findings of cognitive impairment, hypotonia, and abnormalities of the corpus callosum. FGS1 is further characterized by absolute or relative macrocephaly, tall forehead, downslanted palpebral fissures, small and simple ears, constipation and/or anal anomalies, broad thumbs and halluces, and characteristic behavior. LS is further characterized by large head, tall thin body habitus, long thin face, prominent nasal bridge, high narrow palate, and short philtrum. Carrier females in families with FGS1 and LS are typically unaffected. X-linked Ohdo syndrome (XLOS) is characterized by intellectual disability, blepharophimosis, and facial coarsening. A number of individuals with nonsyndromic intellectual disability – including some affected females – have been described.
Pyknodysostosis
MedGen UID:
116061
Concept ID:
C0238402
Congenital Abnormality
Rare autosomal recessive syndrome characterized by delayed closing of CRANIAL SUTURES, short stature, ACRO-OSTEOLYSIS of distal phalanges, dental and MAXILLOFACIAL ABNORMALITIES and an increase in bone density that results in frequent BONE FRACTURES. It is associated with BONE RESORPTION defect due to mutations in the lysosomal cysteine protease CATHEPSIN K.
Seckel syndrome
MedGen UID:
78534
Concept ID:
C0265202
Disease or Syndrome
A rare autosomal recessive inherited syndrome caused by mutations in the ATR gene, RBBP8 gene, CENPJ gene, CEP152 gene, CEP63 gene, NIN gene, DNA2 gene, or TRAIP gene. It is characterized by intrauterine growth retardation, dwarfism, microcephaly, mental retardation, and a "bird-headed" facial appearance.
Microcephalic osteodysplastic primordial dwarfism type 2
MedGen UID:
96587
Concept ID:
C0432246
Congenital Abnormality
Microcephalic osteodysplastic primordial dwarfism type II is characterized by intrauterine growth retardation, severe proportionate short stature, and microcephaly. It is distinct from Seckel syndrome (see 210600) by more severe growth retardation, radiologic abnormalities, and absent or mild mental retardation (summary by Willems et al., 2010).
Deletion of long arm of chromosome 18
MedGen UID:
96605
Concept ID:
C0432443
Disease or Syndrome
A rare genetic syndrome characterized by the deletion of the long arm of chromosome 18. It is associated with short stature, hypotonia, mental retardation, and hand, foot, skull and facial abnormalities.
Floating-Harbor syndrome
MedGen UID:
152667
Concept ID:
C0729582
Disease or Syndrome
Floating-Harbor syndrome (FHS) is characterized by typical craniofacial features; low birth weight, normal head circumference, and short stature; bone age delay that normalizes between ages six and 12 years; skeletal anomalies (brachydactyly, clubbing, clinodactyly, short thumbs, prominent joints, clavicular abnormalities); severe receptive and expressive language impairment; hypernasality and high-pitched voice; and intellectual disability that is typically mild to moderate. Difficulties with temperament and behavior that are present in many children tend to improve in adulthood. Other features can include: hyperopia and/or strabismus; conductive hearing loss; seizures; gastroesophageal reflux; renal anomalies (e.g., hydronephrosis/renal pelviectasis, cysts, and/or agenesis) and genital anomalies (e.g., hypospadias and/or undescended testes).
Alopecia contractures dwarfism mental retardation
MedGen UID:
167081
Concept ID:
C0795895
Disease or Syndrome
A syndrome of total absence of hair, extreme growth failure, mental retardation, and multiple craniofacial, skeletal, and other abnormalities.
Galloway-Mowat syndrome
MedGen UID:
167086
Concept ID:
C0795949
Disease or Syndrome
Galloway-Mowat syndrome is a rare autosomal recessive neurodegenerative disorder characterized by infantile onset of microcephaly and central nervous system abnormalities resulting in severely delayed psychomotor development. Brain imaging shows cerebellar atrophy and sometimes cerebral atrophy. More variable features include optic atrophy, movement disorders, seizures, and nephrotic syndrome (summary by Vodopiutz et al., 2015).
McDonough syndrome
MedGen UID:
162902
Concept ID:
C0796038
Disease or Syndrome
Belongs to the group of multiple congenital anomalies/mental retardation syndromes with intellectual deficit, distinctive facies (upward slanting palpebral fissures, squint), kyphoscoliosis, diastasis recti, cryptorchidism, and a congenital heart defect. Autosomal recessive inheritance suggested.
Intellectual deficit Buenos-Aires type
MedGen UID:
167102
Concept ID:
C0796080
Disease or Syndrome
A syndrome of mental and physical retardation, cardiac and renal malformations, and peculiar facies.
Nance-Horan syndrome
MedGen UID:
208665
Concept ID:
C0796085
Disease or Syndrome
Nance-Horan syndrome is an X-linked disorder characterized by congenital cataracts, dental anomalies, dysmorphic features, and, in some cases, mental retardation (summary by Burdon et al., 2003).
Pettigrew syndrome
MedGen UID:
162924
Concept ID:
C0796254
Disease or Syndrome
Pettigrew syndrome is characterized by mental retardation and highly variable additional features, including choreoathetosis, hydrocephalus, Dandy-Walker malformation, seizures, and iron or calcium deposition in the brain, both between and within families (summary by Cacciagli et al., 2014). See 311510 for another X-linked mental retardation syndrome associated with basal ganglia disease (Waisman syndrome). See 220219 for another mental retardation syndrome with Dandy-Walker malformation.
Facial dysmorphism, lens dislocation, anterior segment abnormalities, and spontaneous filtering blebs
MedGen UID:
330396
Concept ID:
C1832167
Disease or Syndrome
Traboulsi syndrome is characterized by dislocated crystalline lenses and anterior segment abnormalities in association with a distinctive facies involving flat cheeks and a beaked nose. Some affected individuals develop highly unusual nontraumatic conjunctival cysts (filtering blebs), presumably caused by abnormal thinning of the sclera (Patel et al., 2014).
Blepharofacioskeletal syndrome
MedGen UID:
371716
Concept ID:
C1834038
Disease or Syndrome
Schilbach-Rott syndrome is an autosomal dominant disorder characterized by hypotelorism, epicanthal folds, cleft palate, dysmorphic facies, and hypospadias in males. The phenotype is variable; mild mental retardation has been reported (summary by Shkalim et al., 2009).
Prieto X-linked mental retardation syndrome
MedGen UID:
374294
Concept ID:
C1839730
Disease or Syndrome
Mental retardation syndrome with facial abnormalities, subcortical cerebral atrophy, defective tooth development, skin dimples at the lower back, lower limb defects, clinodactyly, luxation of the patella, and eye abnormalities.
Seckel syndrome 2
MedGen UID:
338264
Concept ID:
C1847572
Disease or Syndrome
Seckel syndrome is a rare autosomal recessive disorder characterized by growth retardation, microcephaly with mental retardation, and a characteristic facial appearance (Borglum et al., 2001). For a general phenotypic description and a discussion of genetic heterogeneity of Seckel syndrome, see SCKL1 (210600).
Richieri Costa Pereira syndrome
MedGen UID:
336581
Concept ID:
C1849348
Disease or Syndrome
Patients with Richieri-Costa-Pereira syndrome display a pattern of anomalies consisting of microstomia, micrognathia, abnormal fusion of the mandible, cleft palate/Robin sequence, absence of lower central incisors, minor ear anomalies, hypoplastic first ray, abnormal tibiae, hypoplastic halluces, and clubfeet. Learning disability is also a common finding (summary by Favaro et al., 2011).
Radioulnar synostosis, unilateral, with developmental retardation and hypotonia
MedGen UID:
341460
Concept ID:
C1849470
Disease or Syndrome
Nakajo syndrome
MedGen UID:
376827
Concept ID:
C1850568
Disease or Syndrome
This autosomal recessive systemic autoinflammatory disorder is characterized by early childhood onset of annular erythematous plaques on the face and extremities with subsequent development of partial lipodystrophy and laboratory evidence of immune dysregulation. More variable features include recurrent fever, severe joint contractures, muscle weakness and atrophy, hepatosplenomegaly, basal ganglia calcifications, and microcytic anemia (summary by Agarwal et al., 2010; Kitamura et al., 2011; Arima et al., 2011). This disorder encompasses Nakajo-Nishimura syndrome (NKJO); joint contractures, muscular atrophy, microcytic anemia, and panniculitis-induced lipodystrophy (JMP syndrome); and chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperature syndrome (CANDLE). Among Japanese patients, this disorder is best described as Nakajo-Nishimura syndrome, since both Nakajo (1939) and Nishimura et al. (1950) contributed to the original phenotypic descriptions.
Genitopatellar syndrome
MedGen UID:
381208
Concept ID:
C1853566
Disease or Syndrome
Genitopatellar syndrome is a rare disorder consisting of microcephaly, severe psychomotor retardation, and characteristic coarse facial features, including broad nose and small or retracted chin, associated with congenital flexion contractures of the lower extremities, abnormal or missing patellae, and urogenital anomalies (summary by Penttinen et al., 2009). The SBBYS variant of Ohdo syndrome (603736) is an allelic disorder with overlapping features.
Cutis Verticis Gyrata, Retinitis Pigmentosa, and Sensorineural Deafness
MedGen UID:
340123
Concept ID:
C1854061
Disease or Syndrome
Hall Riggs mental retardation syndrome
MedGen UID:
341089
Concept ID:
C1856198
Disease or Syndrome
Dextrocardia with unusual facies and microphthalmia
MedGen UID:
346559
Concept ID:
C1857298
Disease or Syndrome
Dermatoleukodystrophy
MedGen UID:
387794
Concept ID:
C1857314
Disease or Syndrome
Digitorenocerebral syndrome
MedGen UID:
387800
Concept ID:
C1857345
Disease or Syndrome
TBC1D24-related disorders comprise a continuum that includes the following recognized phenotypes: DOORS syndrome (deafness, onychodystrophy, osteodystrophy, mental retardation, and seizures): profound sensorineural hearing loss, onychodystrophy, osteodystrophy, intellectual disability/developmental delay, and seizures. Familial infantile myoclonic epilepsy (FIME): early-onset myoclonic seizures, focal epilepsy, dysarthria, and mild-to-moderate intellectual disability. Progressive myoclonus epilepsy (PME): action myoclonus, tonic-clonic seizures, progressive neurologic decline, and ataxia. Early-infantile epileptic encephalopathy 16 (EIEE16): epileptiform EEG abnormalities which themselves are believed to contribute to progressive disturbance in cerebral function. Autosomal recessive nonsyndromic hearing loss, DFNB86: profound prelingual deafness. Autosomal dominant nonsyndromic hearing loss, DFNA65: slowly progressive deafness with onset in the third decade, initially affecting the high frequencies.
Bowen-Conradi syndrome
MedGen UID:
349160
Concept ID:
C1859405
Disease or Syndrome
Bowen-Conradi syndrome is a disorder that affects many parts of the body and is usually fatal in infancy. Affected individuals have a low birth weight, experience feeding problems, and grow very slowly. Their head is unusually small overall (microcephaly), but is longer than expected compared with its width (dolichocephaly). Characteristic facial features include a prominent, high-bridged nose and an unusually small jaw (micrognathia) and chin. Affected individuals typically have pinky fingers that are curved toward or away from the ring finger (fifth finger clinodactyly) or permanently flexed (camptodactyly), feet with soles that are rounded outward (rocker-bottom feet), and restricted joint movement.Other features that occur in some affected individuals include seizures; structural abnormalities of the kidneys, heart, brain, or other organs; and an opening in the lip (cleft lip) with or without an opening in the roof of the mouth (cleft palate). Affected males may have the opening of the urethra on the underside of the penis (hypospadias) or undescended testes (cryptorchidism).Babies with Bowen-Conradi syndrome do not achieve developmental milestones such as smiling or sitting, and they usually do not survive more than 6 months.
Osteodysplastic primordial dwarfism, type 1
MedGen UID:
347149
Concept ID:
C1859452
Congenital Abnormality
Microcephalic osteodysplastic primordial dwarfism type I is a severe autosomal recessive skeletal dysplasia characterized by dwarfism, microcephaly, and neurologic abnormalities, including mental retardation, brain malformations, and ocular/auditory sensory deficits. Patients often die in early childhood (summary by Pierce and Morse, 2012).
Acrofacial dysostosis Rodriguez type
MedGen UID:
349730
Concept ID:
C1860119
Disease or Syndrome
Stormorken syndrome
MedGen UID:
350028
Concept ID:
C1861451
Disease or Syndrome
Stormorken syndrome is an autosomal dominant disorder characterized by mild bleeding tendency due to platelet dysfunction, thrombocytopenia, anemia, asplenia, tubular aggregate myopathy, congenital miosis, and ichthyosis. Additional features may include headache or recurrent stroke-like episodes (summary by Misceo et al., 2014).
Anonychia-onychodystrophy with hypoplasia or absence of distal phalanges
MedGen UID:
354848
Concept ID:
C1862841
Disease or Syndrome
Familial anonychia/onychodystrophy with hypoplasia or absence of distal phalanges (ODP) is a rare disorder characterized by onychodystrophy, anonychia, brachydactyly of the fifth finger, and digitalization of the thumbs, with absence or hypoplasia of the distal phalanges of the hands and feet. Generally the nails of the first to third digits are progressively deformed with total anonychia in the last 2 digits and in all toes (summary by Genzer-Nir et al., 2010). A syndrome has been described in which affected females display juvenile hypertrophy of the breast (JHB; 113670) in association with ODP, whereas males have only ODP (mammary-digital-nail syndrome; 613689).
Chromosome 16p13.3 deletion syndrome, proximal
MedGen UID:
350477
Concept ID:
C1864648
Disease or Syndrome
Progeroid facial appearance with hand anomalies
MedGen UID:
356343
Concept ID:
C1865699
Disease or Syndrome
Patterson pseudoleprechaunism syndrome
MedGen UID:
358350
Concept ID:
C1868546
Disease or Syndrome
Mental retardation, autosomal dominant 1
MedGen UID:
409857
Concept ID:
C1969562
Disease or Syndrome
Mental retardation, autosomal recessive 5
MedGen UID:
370849
Concept ID:
C1970199
Disease or Syndrome
Microcephaly with mental retardation and digital anomalies
MedGen UID:
388630
Concept ID:
C2673414
Disease or Syndrome
Chromosome 10q26 deletion syndrome
MedGen UID:
436306
Concept ID:
C2674937
Disease or Syndrome
Rubinstein-Taybi syndrome 2
MedGen UID:
462291
Concept ID:
C3150941
Disease or Syndrome
Rubinstein-Taybi syndrome (RSTS) is characterized by distinctive facial features, broad and often angulated thumbs and great toes, short stature, and moderate to severe intellectual disability. The characteristic craniofacial features are downslanted palpebral fissures, low hanging columella, high palate, grimacing smile, and talon cusps. Prenatal growth is often normal; however, height, weight, and head circumference percentiles rapidly drop in the first few months of life. Obesity may occur in childhood or adolescence. IQ scores range from 25 to 79; average IQ is between 36 and 51. Other variable findings are coloboma, cataract, congenital heart defects, renal abnormalities, and cryptorchidism.
Spastic paraplegia 52, autosomal recessive
MedGen UID:
481373
Concept ID:
C3279743
Disease or Syndrome
Spastic quadriplegia-52 is an autosomal recessive neurodevelopmental disorder characterized by neonatal hypotonia that progresses to hypertonia and spasticity and severe mental retardation with poor or absent speech development (summary by Abou Jamra et al., 2011). Some patients may have seizures (Hardies et al., 2015).
Mental retardation, autosomal recessive 15
MedGen UID:
481757
Concept ID:
C3280127
Disease or Syndrome
Microcephaly, cerebellar hypoplasia, and cardiac conduction defect syndrome
MedGen UID:
482322
Concept ID:
C3280692
Disease or Syndrome
The Zaki-Gleeson syndrome is an autosomal recessive neurodevelopmental disorder characterized by profound mental retardation, severe microcephaly, poor growth, cerebellar hypoplasia, and second-degree cardiac conduction defects (summary by Zaki et al., 2011).
Short stature, onychodysplasia, facial dysmorphism, and hypotrichosis
MedGen UID:
762199
Concept ID:
C3542022
Disease or Syndrome
SOFT syndrome is characterized by severely short long bones, peculiar facies associated with paucity of hair, and nail anomalies. Growth retardation is evident on prenatal ultrasound as early as the second trimester of pregnancy, and affected individuals reach a final stature consistent with a height age of 6 years to 8 years. Relative macrocephaly is present during early childhood but head circumference is markedly low by adulthood. Psychomotor development is normal. Facial dysmorphism includes a long, triangular face with prominent nose and small ears, and affected individuals have an unusual high-pitched voice. Clinodactyly, brachydactyly, and hypoplastic distal phalanges and fingernails are present in association with postpubertal sparse and short hair. Typical skeletal findings include short and thick long bones with mild irregular metaphyseal changes, short femoral necks, and hypoplastic pelvis and sacrum. All long bones of the hand are short, with major delay of carpal ossification and cone-shaped epiphyses. Vertebral body ossification is also delayed (summary by Sarig et al., 2012).
Seckel syndrome 7
MedGen UID:
766784
Concept ID:
C3553870
Disease or Syndrome
Ohdo syndrome, X-linked
MedGen UID:
785805
Concept ID:
C3698541
Disease or Syndrome
The Maat-Kievit-Brunner type of Ohdo syndrome is a rare condition characterized by intellectual disability and distinctive facial features. It has only been reported in males.The intellectual disability associated with this condition varies from mild to severe, and the development of motor skills (such as sitting, standing, and walking) is delayed. Some affected individuals also have behavioral problems.Distinctive facial features often seen in this condition include a narrowing of the eye opening (blepharophimosis), droopy eyelids (ptosis), prominent cheeks, a broad nasal bridge, a nose with a rounded tip, a large space between the nose and upper lip (a long philtrum), and a narrow mouth. Some affected individuals also have widely set eyes (hypertelorism), an unusually small chin (micrognathia), and small and low-set ears. As people with the condition get older, these facial characteristics become more pronounced and the face becomes more triangular.Other possible signs of this condition include dental problems, weak muscle tone (hypotonia), and hearing loss.
Mental retardation, autosomal recessive 39
MedGen UID:
816183
Concept ID:
C3809853
Disease or Syndrome
Chromosome 5q12 deletion syndrome
MedGen UID:
816612
Concept ID:
C3810282
Disease or Syndrome
MICROCEPHALY 13, PRIMARY, AUTOSOMAL RECESSIVE
MedGen UID:
863517
Concept ID:
C4015080
Disease or Syndrome
MICROCEPHALY AND CHORIORETINOPATHY, AUTOSOMAL RECESSIVE, 2
MedGen UID:
863825
Concept ID:
C4015388
Disease or Syndrome
SHORT-RIB THORACIC DYSPLASIA 13 WITH OR WITHOUT POLYDACTYLY
MedGen UID:
898712
Concept ID:
C4225378
Disease or Syndrome

Recent clinical studies

Etiology

Koudelová J, Brůžek J, Cagáňová V, Krajíček V, Velemínská J
Orthod Craniofac Res 2015 Aug;18(3):175-84. Epub 2015 May 8 doi: 10.1111/ocr.12096. PMID: 25958883
Zhao XG, Hans MG, Palomo JM, Lin JX
Angle Orthod 2013 Sep;83(5):809-16. Epub 2013 Jan 31 doi: 10.2319/110412-849.1. PMID: 23368780
Thomas M, Reddy VD, Lakshmi HV
Indian J Dent Res 2012 May-Jun;23(3):353-8. doi: 10.4103/0970-9290.102224. PMID: 23059572
Shalev SA, Spiegel R, Borochowitz ZU
Eur J Med Genet 2012 Apr;55(4):256-64. Epub 2012 Mar 3 doi: 10.1016/j.ejmg.2012.02.011. PMID: 22440536
Bacha F, Hoo JJ
Am J Med Genet 2001 Jun 1;101(1):70-3. PMID: 11343342

Diagnosis

Vera-Carbonell A, López-González V, Bafalliu JA, Ballesta-Martínez MJ, Fernández A, Guillén-Navarro E, López-Expósito I
Am J Med Genet A 2015 Apr;167A(4):786-90. Epub 2015 Feb 5 doi: 10.1002/ajmg.a.36949. PMID: 25655674
Bartholdi D, Stray-Pedersen A, Azzarello-Burri S, Kibaek M, Kirchhoff M, Oneda B, Rødningen O, Schmitt-Mechelke T, Rauch A, Kjaergaard S
Am J Med Genet A 2014 May;164A(5):1277-83. Epub 2014 Mar 24 doi: 10.1002/ajmg.a.36439. PMID: 24664804
Lindstrand A, Grigelioniene G, Nilsson D, Pettersson M, Hofmeister W, Anderlid BM, Kant SG, Ruivenkamp CA, Gustavsson P, Valta H, Geiberger S, Topa A, Lagerstedt-Robinson K, Taylan F, Wincent J, Laurell T, Pekkinen M, Nordenskjöld M, Mäkitie O, Nordgren A
J Med Genet 2014 Jan;51(1):45-54. Epub 2013 Nov 7 doi: 10.1136/jmedgenet-2013-101937. PMID: 24203977
Mullegama SV, Rosenfeld JA, Orellana C, van Bon BW, Halbach S, Repnikova EA, Brick L, Li C, Dupuis L, Rosello M, Aradhya S, Stavropoulos DJ, Manickam K, Mitchell E, Hodge JC, Talkowski ME, Gusella JF, Keller K, Zonana J, Schwartz S, Pyatt RE, Waggoner DJ, Shaffer LG, Lin AE, de Vries BB, Mendoza-Londono R, Elsea SH
Eur J Hum Genet 2014 Jan;22(1):57-63. Epub 2013 May 1 doi: 10.1038/ejhg.2013.67. PMID: 23632792Free PMC Article
Bacha F, Hoo JJ
Am J Med Genet 2001 Jun 1;101(1):70-3. PMID: 11343342

Therapy

Bhandari V, Singla A, Mahajan V, Jaj HS, Saini SS
Indian J Dent Res 2015 Sep-Oct;26(5):469-76. doi: 10.4103/0970-9290.172037. PMID: 26672415

Prognosis

Doubaj Y, De Sandre-Giovannoli A, Vera EV, Navarro CL, Elalaoui SC, Tajir M, Lévy N, Sefiani A
Am J Med Genet A 2012 Nov;158A(11):2881-7. Epub 2012 Sep 18 doi: 10.1002/ajmg.a.35557. PMID: 22991222
Mladina R, Skitarelić N, Vuković K
Med Hypotheses 2009 Sep;73(3):280-3. Epub 2009 May 12 doi: 10.1016/j.mehy.2009.03.045. PMID: 19442453
Rivera H, Domínguez MG, Matute E
Genet Couns 2006;17(4):401-5. PMID: 17375525
Shulman SA, Hyams JS, Gunta R, Greenstein RM, Cassidy SB
Am J Med Genet 1984 Oct;19(2):325-32. doi: 10.1002/ajmg.1320190215. PMID: 6439040
Garcia FP, Hsu LY, Fox H, Gribetz D
J Med Genet 1975 Mar;12(1):104-5. PMID: 1121015Free PMC Article

Clinical prediction guides

Vera-Carbonell A, López-González V, Bafalliu JA, Ballesta-Martínez MJ, Fernández A, Guillén-Navarro E, López-Expósito I
Am J Med Genet A 2015 Apr;167A(4):786-90. Epub 2015 Feb 5 doi: 10.1002/ajmg.a.36949. PMID: 25655674
Bartholdi D, Stray-Pedersen A, Azzarello-Burri S, Kibaek M, Kirchhoff M, Oneda B, Rødningen O, Schmitt-Mechelke T, Rauch A, Kjaergaard S
Am J Med Genet A 2014 May;164A(5):1277-83. Epub 2014 Mar 24 doi: 10.1002/ajmg.a.36439. PMID: 24664804
Lindstrand A, Grigelioniene G, Nilsson D, Pettersson M, Hofmeister W, Anderlid BM, Kant SG, Ruivenkamp CA, Gustavsson P, Valta H, Geiberger S, Topa A, Lagerstedt-Robinson K, Taylan F, Wincent J, Laurell T, Pekkinen M, Nordenskjöld M, Mäkitie O, Nordgren A
J Med Genet 2014 Jan;51(1):45-54. Epub 2013 Nov 7 doi: 10.1136/jmedgenet-2013-101937. PMID: 24203977
Mullegama SV, Rosenfeld JA, Orellana C, van Bon BW, Halbach S, Repnikova EA, Brick L, Li C, Dupuis L, Rosello M, Aradhya S, Stavropoulos DJ, Manickam K, Mitchell E, Hodge JC, Talkowski ME, Gusella JF, Keller K, Zonana J, Schwartz S, Pyatt RE, Waggoner DJ, Shaffer LG, Lin AE, de Vries BB, Mendoza-Londono R, Elsea SH
Eur J Hum Genet 2014 Jan;22(1):57-63. Epub 2013 May 1 doi: 10.1038/ejhg.2013.67. PMID: 23632792Free PMC Article
Doubaj Y, De Sandre-Giovannoli A, Vera EV, Navarro CL, Elalaoui SC, Tajir M, Lévy N, Sefiani A
Am J Med Genet A 2012 Nov;158A(11):2881-7. Epub 2012 Sep 18 doi: 10.1002/ajmg.a.35557. PMID: 22991222

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