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Focal dermal hypoplasia(FDH)

MedGen UID:
42055
Concept ID:
C0016395
Disease or Syndrome
Synonyms: FDH; Goltz Gorlin Syndrome; Goltz Syndrome
Modes of inheritance:
x-linked dominant
MedGen UID:
376232
Concept ID:
C1847879
Finding
Sources: HPO, OMIM, Orphanet
A mode of inheritance that is observed for dominant traits related to a gene encoded on the X chromosome. In the context of medical genetics, X-linked dominant disorders tend to manifest very severely in affected males. The severity of manifestation in females may depend on the degree of skewed X inactivation.
x-linked dominant (HPO, OMIM, Orphanet)
SNOMED CT: Focal facial dermal dysplasia (2298005); Goltz-Gorlin (dermal hypoplasia) syndrome (2298005); Goltz Gorlin syndrome (2298005); Focal dermal hypoplasia (205573006); FDH - Focal dermal hypoplasia (205573006); FODH - Focal dermal hypoplasia (205573006); Goltz syndrome (2298005); Focal dermal hypoplasia syndrome (2298005); Goltz-Gorlin syndrome (2298005)
 
Gene (location): PORCN (Xp11.23)
OMIM®: 305600
Orphanet: ORPHA2092

Disease characteristics

Excerpted from the GeneReview: Focal Dermal Hypoplasia
Focal dermal hypoplasia is a multisystem disorder characterized primarily by involvement of the skin, skeletal system, eyes, and face. Skin manifestations present at birth include atrophic and hypoplastic areas of skin; cutis aplasia; fat nodules in the dermis manifesting as soft, yellow-pink cutaneous nodules; and pigmentary changes. Verrucoid papillomas of the skin and mucous membranes may appear later. The nails can be ridged, dysplastic, or hypoplastic; hair can be sparse or absent. Limb malformations include oligo-/syndactyly and split hand/foot. Developmental abnormalities of the eye can include anophthalmia/microphthalmia, iris and chorioretinal coloboma, and lacrimal duct abnormalities. Craniofacial findings can include facial asymmetry, notched alae nasi, cleft lip and palate, and pointed chin. Occasional findings include dental anomalies, abdominal wall defects, diaphragmatic hernia, and renal anomalies. Psychomotor development is usually normal; some individuals have cognitive impairment. [from GeneReviews]
Authors:
Bret Bostwick  |  Ignatia B Van den Veyver  |  V Reid Sutton   view full author information

Additional descriptions

From OMIM
Focal dermal hypoplasia is inherited as an X-linked dominant with in utero lethality in males. The features include atrophy and linear pigmentation of the skin, herniation of fat through the dermal defects, and multiple papillomas of the mucous membranes or skin. In addition, digital anomalies consist of syndactyly, polydactyly, camptodactyly, and absence deformities. Oral anomalies, in addition to lip papillomas, include hypoplastic teeth. Ocular anomalies (coloboma of iris and choroid, strabismus, microphthalmia) have also been present in some cases. Mental retardation occurs in some patients. Striated bones are probably a nearly constant feature (Larregue and Duterque, 1975; Happle and Lenz, 1977). Reports from the International Research Symposium on Goltz Syndrome in 2013 were published in the American Journal of Medical Genetics; the authors and subjects of the reports are listed in an introduction by Fete and Fete (2016).  http://www.omim.org/entry/305600
From GHR
Focal dermal hypoplasia is a genetic disorder that primarily affects the skin, skeleton, eyes, and face. About 90 percent of affected individuals are female. Males usually have milder signs and symptoms than females. Although intelligence is typically unaffected, some individuals have intellectual disability.People with focal dermal hypoplasia have skin abnormalities present from birth, such as streaks of very thin skin (dermal hypoplasia), yellowish-pink nodules of fat under the skin, areas where the top layers of skin are absent (cutis aplasia), small clusters of veins on the surface of the skin (telangiectases), and streaks of slightly darker or lighter skin. These skin changes may cause pain, itching, irritation, or lead to skin infections. Wart-like growths called papillomas are usually not present at birth but develop with age. Papillomas typically form around the nostrils, lips, anus, and female genitalia. They may also be present in the throat, specifically in the esophagus or larynx, and can cause problems with swallowing, breathing, or sleeping. Papillomas can usually be surgically removed if necessary. Affected individuals may have small, ridged fingernails and toenails. Hair on the scalp can be sparse and brittle or absent.Many individuals with focal dermal hypoplasia have hand and foot abnormalities, including missing fingers or toes (oligodactyly), webbed or fused fingers or toes (syndactyly), and a deep split in the hands or feet with missing fingers or toes and fusion of the remaining digits (ectrodactyly). X-rays can show streaks of altered bone density, called osteopathia striata, that do not cause any symptoms in people with focal dermal hypoplasia.Eye abnormalities are common in individuals with focal dermal hypoplasia, including small eyes (microphthalmia), absent or severely underdeveloped eyes (anophthalmia), and problems with the tear ducts. Affected individuals may also have incomplete development of the light-sensitive tissue at the back of the eye (retina) or the nerve that relays visual information from the eye to the brain (optic nerve). This abnormal development of the retina and optic nerve can result in a gap or split in these structures, which is called a coloboma. Some of these eye abnormalities do not impair vision, while others can lead to low vision or blindness.People with focal dermal hypoplasia may have distinctive facial features. Affected individuals often have a pointed chin, small ears, notched nostrils, and a slight difference in the size and shape of the right and left sides of the face (facial asymmetry). These facial characteristics are typically very subtle. An opening in the lip (cleft lip) with or without an opening in the roof of the mouth (cleft palate) may also be present.About half of individuals with focal dermal hypoplasia have abnormalities of their teeth, especially the hard, white material that forms the protective outer layer of each tooth (enamel). Less commonly, abnormalities of the kidneys and gastrointestinal system are present. The kidneys may be fused together, which predisposes affected individuals to kidney infections but does not typically cause significant health problems. The main gastrointestinal abnormality that occurs in people with focal dermal hypoplasia is an omphalocele, which is an opening in the wall of the abdomen that allows the abdominal organs to protrude through the navel. The signs and symptoms of focal dermal hypoplasia vary widely, although almost all affected individuals have skin abnormalities.  https://ghr.nlm.nih.gov/condition/focal-dermal-hypoplasia

Clinical features

Anophthalmia
MedGen UID:
314
Concept ID:
C0003119
Congenital Abnormality
Congenital absence of the eye or eyes.
Microphthalmos
MedGen UID:
10033
Concept ID:
C0026010
Congenital Abnormality
Microphthalmia is an eye abnormality that arises before birth. In this condition, one or both eyeballs are abnormally small. In some affected individuals, the eyeball may appear to be completely missing; however, even in these cases some remaining eye tissue is generally present. Such severe microphthalmia should be distinguished from another condition called anophthalmia, in which no eyeball forms at all. However, the terms anophthalmia and severe microphthalmia are often used interchangeably. Microphthalmia may or may not result in significant vision loss.People with microphthalmia may also have a condition called coloboma. Colobomas are missing pieces of tissue in structures that form the eye. They may appear as notches or gaps in the colored part of the eye called the iris; the retina, which is the specialized light-sensitive tissue that lines the back of the eye; the blood vessel layer under the retina called the choroid; or in the optic nerves, which carry information from the eyes to the brain. Colobomas may be present in one or both eyes and, depending on their size and location, can affect a person's vision.People with microphthalmia may also have other eye abnormalities, including clouding of the lens of the eye (cataract) and a narrowed opening of the eye (narrowed palpebral fissure). Additionally, affected individuals may have an abnormality called microcornea, in which the clear front covering of the eye (cornea) is small and abnormally curved.Between one-third and one-half of affected individuals have microphthalmia as part of a syndrome that affects other organs and tissues in the body. These forms of the condition are described as syndromic. When microphthalmia occurs by itself, it is described as nonsyndromic or isolated.
Nystagmus
MedGen UID:
45166
Concept ID:
C0028738
Disease or Syndrome
Rhythmic, involuntary oscillations of one or both eyes related to abnormality in fixation, conjugate gaze, or vestibular mechanisms.
Strabismus
MedGen UID:
21337
Concept ID:
C0038379
Disease or Syndrome
Strabismus (also known as squint) is a condition in which the eyes are not properly aligned with each other.
Polydactyly of toes
MedGen UID:
510637
Concept ID:
C0158734
Congenital Abnormality
A kind of polydactyly characterized by the presence of a supernumerary toe or toes.
Claw hand
MedGen UID:
67457
Concept ID:
C0221373
Anatomical Abnormality
A condition in which middle parts of the hand (fingers and metacarpals) are missing giving a cleft appearance. The severity is very variable ranging from slightly hypoplastic middle fingers over absent middel fingers as far as oligo- or monodactyl hands.
Syndactyly of toes
MedGen UID:
75581
Concept ID:
C0265660
Congenital Abnormality
Webbing or fusion of the toes, involving soft parts only or including bone structure. Bony fusions are revered to as \
Oligodactyly (feet)
MedGen UID:
140882
Concept ID:
C0426934
Finding
A developmental defect resulting in the presence of fewer than the normal number of toes.
Ulnar polydactyly of fingers
MedGen UID:
609221
Concept ID:
C0431904
Congenital Abnormality
Supernumerary digits located at the ulnar side of the hand (that is, on the side with the fifth finger).
Split foot
MedGen UID:
140919
Concept ID:
C0432028
Congenital Abnormality
A condition in which middle parts of the foot (toes and metatarsals) are missing giving a cleft appearance. The severity is very variable ranging from slightly hypoplastic 3rd toe over absent 2nd or 3rd toes as far as oligo- or monodactyl feet.
Hand oligodactyly
MedGen UID:
152602
Concept ID:
C0728895
Congenital Abnormality
A developmental defect resulting in the presence of fewer than the normal number of fingers.
Short phalanx of finger
MedGen UID:
163753
Concept ID:
C0877165
Congenital Abnormality
Short (hypoplastic) phalanx of finger, affecting one or more phalanges.
Short metacarpal
MedGen UID:
323064
Concept ID:
C1837084
Finding
Diminished length of one or more metacarpal bones in relation to the others of the same hand or to the contralateral metacarpal.
Short finger
MedGen UID:
334977
Concept ID:
C1844548
Anatomical Abnormality
Abnormally short finger associated with developmental hypoplasia.
Short metatarsal
MedGen UID:
341358
Concept ID:
C1849020
Finding
Diminished length of a metatarsal bone, with resultant proximal displacement of the associated toe.
Mixed hearing impairment
MedGen UID:
102336
Concept ID:
C0155552
Disease or Syndrome
A type of hearing loss resulting from a combination of conductive hearing impairment and sensorineural hearing impairment.
Hydrocephalus
MedGen UID:
9335
Concept ID:
C0020255
Disease or Syndrome
Autosomal recessive nonsyndromic hydrocephalus is characterized by onset in utero of enlarged ventricles due to a disturbance of cerebrospinal fluid accumulation. Affected individuals may have neurologic impairment (summary by Drielsma et al., 2012). Hydrocephalus can also be caused by Arnold-Chiari malformation, atresia of foramen of Magendie, stenosis of aqueduct of Sylvius (307000), toxoplasmosis, hydranencephaly, etc. Furthermore, it develops in infancy or childhood in achondroplasia (100800) and in Hurler disease (607014). Genetic Heterogeneity of Congenital Hydrocephalus See also autosomal recessive HYC2 (615219), caused by mutation in the MPDZ gene (603785) on chromosome 9p. An X-linked form (307000) is caused by mutation in the L1CAM gene on (308840) on chromosome Xq28.
Myelocystocele
MedGen UID:
7538
Concept ID:
C0025312
Congenital Abnormality
Herniation of spinal cord tissue and meninges through a defect in a region of the vertebral column.
Spina bifida occulta
MedGen UID:
36380
Concept ID:
C0080174
Congenital Abnormality
The closed form of spina bifida with incomplete closure of a vertebral body with intact overlying skin.
Corpus callosum agenesis
MedGen UID:
104498
Concept ID:
C0175754
Congenital Abnormality
The corpus callosum is the largest fiber tract in the central nervous system and the major interhemispheric fiber bundle in the brain. Formation of the corpus callosum begins as early as 6 weeks' gestation, with the first fibers crossing the midline at 11 to 12 weeks' gestation, and completion of the basic shape by age 18 to 20 weeks (Schell-Apacik et al., 2008). Agenesis of the corpus callosum (ACC) is one of the most frequent malformations in brain with a reported incidence ranging between 0.5 and 70 in 10,000 births. ACC is a clinically and genetically heterogeneous condition, which can be observed either as an isolated condition or as a manifestation in the context of a congenital syndrome (see MOLECULAR GENETICS and Dobyns, 1996). Schell-Apacik et al. (2008) noted that there is confusion in the literature regarding radiologic terminology concerning partial absence of the corpus callosum, where various designations have been used, including hypogenesis, hypoplasia, partial agenesis, or dysgenesis.
Microcephaly
MedGen UID:
473122
Concept ID:
C0424688
Finding
Occipito-frontal (head) circumference (OFC) less than -3 standard deviations compared to appropriate, age matched, normal standards (Ross JJ, Frias JL 1977, PMID:9683597). Alternatively, decreased size of the cranium.
Diastasis recti
MedGen UID:
113171
Concept ID:
C0221766
Anatomical Abnormality
A separation of the rectus abdominis muscle into right and left halves (which are normally joined at the midline at the linea alba).
Congenital diaphragmatic hernia
MedGen UID:
68625
Concept ID:
C0235833
Congenital Abnormality
The presence of a hernia of the diaphragm present at birth.
Dysplasia of acetabulum
MedGen UID:
9258
Concept ID:
C0019555
Congenital Abnormality
The presence of developmental dysplasia of the hip.
Polydactyly of toes
MedGen UID:
510637
Concept ID:
C0158734
Congenital Abnormality
A kind of polydactyly characterized by the presence of a supernumerary toe or toes.
Claw hand
MedGen UID:
67457
Concept ID:
C0221373
Anatomical Abnormality
A condition in which middle parts of the hand (fingers and metacarpals) are missing giving a cleft appearance. The severity is very variable ranging from slightly hypoplastic middle fingers over absent middel fingers as far as oligo- or monodactyl hands.
Osteopathia striata
MedGen UID:
75574
Concept ID:
C0265513
Congenital Abnormality
A lamellar pattern visible on radiographs and mainly localized at the metaphyses of the long tubular bones. Pathologic-anatomical studies revealed that these benign signs on x-rays are the result of a juvenile metaphyseal bone necrosis. Calcifications in the necrotic marrow lead to this lamellar or lattice-like appearance.
Syndactyly of toes
MedGen UID:
75581
Concept ID:
C0265660
Congenital Abnormality
Webbing or fusion of the toes, involving soft parts only or including bone structure. Bony fusions are revered to as \
Microcephaly
MedGen UID:
473122
Concept ID:
C0424688
Finding
Occipito-frontal (head) circumference (OFC) less than -3 standard deviations compared to appropriate, age matched, normal standards (Ross JJ, Frias JL 1977, PMID:9683597). Alternatively, decreased size of the cranium.
Oligodactyly (feet)
MedGen UID:
140882
Concept ID:
C0426934
Finding
A developmental defect resulting in the presence of fewer than the normal number of toes.
Ulnar polydactyly of fingers
MedGen UID:
609221
Concept ID:
C0431904
Congenital Abnormality
Supernumerary digits located at the ulnar side of the hand (that is, on the side with the fifth finger).
Split foot
MedGen UID:
140919
Concept ID:
C0432028
Congenital Abnormality
A condition in which middle parts of the foot (toes and metatarsals) are missing giving a cleft appearance. The severity is very variable ranging from slightly hypoplastic 3rd toe over absent 2nd or 3rd toes as far as oligo- or monodactyl feet.
Hand oligodactyly
MedGen UID:
152602
Concept ID:
C0728895
Congenital Abnormality
A developmental defect resulting in the presence of fewer than the normal number of fingers.
Short phalanx of finger
MedGen UID:
163753
Concept ID:
C0877165
Congenital Abnormality
Short (hypoplastic) phalanx of finger, affecting one or more phalanges.
Short metacarpal
MedGen UID:
323064
Concept ID:
C1837084
Finding
Diminished length of one or more metacarpal bones in relation to the others of the same hand or to the contralateral metacarpal.
Short finger
MedGen UID:
334977
Concept ID:
C1844548
Anatomical Abnormality
Abnormally short finger associated with developmental hypoplasia.
Short metatarsal
MedGen UID:
341358
Concept ID:
C1849020
Finding
Diminished length of a metatarsal bone, with resultant proximal displacement of the associated toe.
Microcephaly
MedGen UID:
473122
Concept ID:
C0424688
Finding
Occipito-frontal (head) circumference (OFC) less than -3 standard deviations compared to appropriate, age matched, normal standards (Ross JJ, Frias JL 1977, PMID:9683597). Alternatively, decreased size of the cranium.
Narrow nasal bridge
MedGen UID:
98086
Concept ID:
C0426422
Finding
Interalar distance more than 2 SD below the mean for age, or alternatively, an apparently decreased width of the nasal base and alae.
Broad nasal tip
MedGen UID:
98424
Concept ID:
C0426429
Finding
Increase in width of the nasal tip.
Cleft secondary palate
MedGen UID:
756015
Concept ID:
C2981150
Congenital Abnormality
Cleft palate is a developmental defect of the palate resulting from a failure of fusion of the palatine processes and manifesting as a separation of the roof of the mouth (soft and hard palate).
Cleft upper lip
MedGen UID:
892653
Concept ID:
C4020893
Anatomical Abnormality
A gap in the upper lip. This is a congenital defect resulting from nonfusion of tissues of the lip during embryonal development.
Inguinal hernia
MedGen UID:
6817
Concept ID:
C0019294
Finding
An abdominal hernia with an external bulge in the GROIN region. It can be classified by the location of herniation. Indirect inguinal hernias occur through the internal inguinal ring. Direct inguinal hernias occur through defects in the ABDOMINAL WALL (transversalis fascia) in Hesselbach's triangle. The former type is commonly seen in children and young adults; the latter in adults.
Umbilical hernia
MedGen UID:
9232
Concept ID:
C0019322
Anatomical Abnormality
Protrusion of abdominal contents through a defect in the abdominal wall musculature around the umbilicus. Skin and subcutaneous tissue overlie the defect.
Congenital diaphragmatic hernia
MedGen UID:
68625
Concept ID:
C0235833
Congenital Abnormality
The presence of a hernia of the diaphragm present at birth.
Congenital omphalocele
MedGen UID:
162756
Concept ID:
C0795690
Congenital Abnormality
An omphalocele is an abdominal wall defect limited to an open umbilical ring, and is characterized by the herniation of membrane-covered internal organs into the open base of the umbilical cord. Omphalocele is distinguished from gastroschisis (230750), in which the abdominal wall defect is located laterally to a normally closed umbilical ring with herniation of organs that are uncovered by membranes (summary by Bugge, 2010). On the basis of clinical manifestations, epidemiologic characteristics, and the presence of additional malformations, Yang et al. (1992) concluded that omphalocele and gastroschisis are casually and pathogenetically distinct abdominal wall defects. Omphalocele can be a feature of genetic disorders, such as Beckwith-Wiedemann syndrome (130650) and the Shprintzen-Goldberg syndrome (182210).
Hiatal hernia
MedGen UID:
483347
Concept ID:
C3489393
Anatomical Abnormality
A hiatal hernia is a condition in which the upper part of the stomach bulges through an opening in the diaphragm. The diaphragm is the muscle wall that separates the stomach from the chest. The diaphragm helps keep acid from coming up into the esophagus. When you have a hiatal hernia, it's easier for the acid to come up. The leaking of acid from the stomach into the esophagus is called gastroesophageal reflux disease (GERD). GERD may cause symptoms such as . -Heartburn. -Problems swallowing. -A dry cough. -Bad breath. Hiatal hernias are common, especially in people over age 50. If you have symptoms, eating small meals, avoiding certain foods, not smoking or drinking alcohol, and losing weight may help. Your doctor may recommend antacids or other medicines. If these don't help, you may need surgery. NIH: National Institute of Diabetes and Digestive and Kidney Diseases.
Dystrophia unguium
MedGen UID:
66368
Concept ID:
C0221260
Disease or Syndrome
Onychodystrophy (nail dystrophy) refers to nail changes apart from changes of the color (nail dyschromia) and involves partial or complete disruption of the various keratinous layers of the nail plate.
Brittle hair
MedGen UID:
120480
Concept ID:
C0263490
Disease or Syndrome
Fragile, easily breakable hair, i.e., with reduced tensile strength.
Nail dysplasia
MedGen UID:
331737
Concept ID:
C1834405
Disease or Syndrome
The presence of developmental dysplasia of the nail.
Sparse hair
MedGen UID:
332942
Concept ID:
C1837770
Finding
Reduced density of hairs.
Absent fingernail
MedGen UID:
336718
Concept ID:
C1844554
Finding
Absence of a fingernail.
Absent toenail
MedGen UID:
336719
Concept ID:
C1844555
Finding
Congenital absence of the toenail.
Supernumerary nipple
MedGen UID:
120564
Concept ID:
C0266011
Congenital Abnormality
Presence of more than two nipples.
Hypoplasia of nipple
MedGen UID:
98156
Concept ID:
C0432355
Congenital Abnormality
Underdevelopment of the nipple.

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVFocal dermal hypoplasia
Follow this link to review classifications for Focal dermal hypoplasia in Orphanet.

Recent clinical studies

Etiology

Motil KJ, Fete M, Fete TJ
Am J Med Genet C Semin Med Genet 2016 Mar;172C(1):29-33. Epub 2016 Feb 1 doi: 10.1002/ajmg.c.31468. PMID: 27001925
Bostwick B, Fang P, Patel A, Sutton VR
Am J Med Genet C Semin Med Genet 2016 Mar;172C(1):9-20. Epub 2016 Feb 7 doi: 10.1002/ajmg.c.31473. PMID: 26853229
Deidrick KK, Early M, Constance J, Stein M, Fete TJ
Am J Med Genet C Semin Med Genet 2016 Mar;172C(1):34-40. Epub 2016 Jan 28 doi: 10.1002/ajmg.c.31471. PMID: 26818018
Murakami C, de Oliveira Lira Ortega A, Guimarães AS, Gonçalves-Bittar D, Bönecker M, Ciamponi AL
Oral Surg Oral Med Oral Pathol Oral Radiol Endod 2011 Aug;112(2):e11-8. doi: 10.1016/j.tripleo.2011.03.012. PMID: 21684779
Riyaz N, Riyaz A, Chandran R, Rakesh SV
Indian J Dermatol Venereol Leprol 2005 Jul-Aug;71(4):279-81. PMID: 16394441

Diagnosis

Gisseman JD, Herce HH
Am J Med Genet C Semin Med Genet 2016 Mar;172C(1):59-63. doi: 10.1002/ajmg.c.31480. PMID: 27001926
Bree AF, Grange DK, Hicks MJ, Goltz RW
Am J Med Genet C Semin Med Genet 2016 Mar;172C(1):44-51. Epub 2016 Feb 9 doi: 10.1002/ajmg.c.31472. PMID: 26858134
Bostwick B, Fang P, Patel A, Sutton VR
Am J Med Genet C Semin Med Genet 2016 Mar;172C(1):9-20. Epub 2016 Feb 7 doi: 10.1002/ajmg.c.31473. PMID: 26853229
Deidrick KK, Early M, Constance J, Stein M, Fete TJ
Am J Med Genet C Semin Med Genet 2016 Mar;172C(1):34-40. Epub 2016 Jan 28 doi: 10.1002/ajmg.c.31471. PMID: 26818018
Peters T, Perrier R, Haber RM
Pediatr Dermatol 2014 Mar-Apr;31(2):220-4. Epub 2014 Jan 5 doi: 10.1111/pde.12267. PMID: 24387693

Therapy

Nakanishi G, Hasegawa K, Oono T, Koshida S, Fujimoto N, Iwatsuki K, Tanaka H, Tanaka T
Eur J Dermatol 2013 Jan-Feb;23(1):64-7. doi: 10.1684/ejd.2012.1911. PMID: 23399492
Maalouf D, Mégarbané H, Chouery E, Nasr J, Badens C, Lacoste C, Grzeschik KH, Mégarbané A
Arch Dermatol 2012 Jan;148(1):85-8. doi: 10.1001/archdermatol.2011.343. PMID: 22250236
Liu J, Hsu PT, VanderWielen BA, Teng JM
Pediatr Dermatol 2012 May-Jun;29(3):324-6. Epub 2011 Oct 13 doi: 10.1111/j.1525-1470.2011.01436.x. PMID: 21995324
Clements SE, Mellerio JE, Holden ST, McCauley J, McGrath JA
Br J Dermatol 2009 May;160(5):1103-9. Epub 2009 Mar 9 doi: 10.1111/j.1365-2133.2009.09048.x. PMID: 19292719
Harmsen MB, Azzarello-Burri S, García González MM, Gillessen-Kaesbach G, Meinecke P, Müller D, Rauch A, Rossier E, Seemanova E, Spaich C, Steiner B, Wieczorek D, Zenker M, Kutsche K
Eur J Hum Genet 2009 Oct;17(10):1207-15. Epub 2009 Mar 11 doi: 10.1038/ejhg.2009.40. PMID: 19277062Free PMC Article

Prognosis

Bree AF, Grange DK, Hicks MJ, Goltz RW
Am J Med Genet C Semin Med Genet 2016 Mar;172C(1):44-51. Epub 2016 Feb 9 doi: 10.1002/ajmg.c.31472. PMID: 26858134
Arias-Llorente RP, Rodriguez-Dehli C, López-Martínez A, Riaño-Galán I
Fetal Pediatr Pathol 2015;34(6):375-82. Epub 2015 Oct 16 doi: 10.3109/15513815.2015.1095257. PMID: 26470739
Murakami C, de Oliveira Lira Ortega A, Guimarães AS, Gonçalves-Bittar D, Bönecker M, Ciamponi AL
Oral Surg Oral Med Oral Pathol Oral Radiol Endod 2011 Aug;112(2):e11-8. doi: 10.1016/j.tripleo.2011.03.012. PMID: 21684779
Dias C, Basto J, Pinho O, Barbêdo C, Mártins M, Bornholdt D, Fortuna A, Grzeschik KH, Lima M
Fetal Pediatr Pathol 2010;29(5):305-13. doi: 10.3109/15513811003796912. PMID: 20704476
Tejani Z, Batra P, Mason C, Atherton D
J Clin Pediatr Dent 2005 Fall;30(1):67-72. PMID: 16302603

Clinical prediction guides

Gisseman JD, Herce HH
Am J Med Genet C Semin Med Genet 2016 Mar;172C(1):59-63. doi: 10.1002/ajmg.c.31480. PMID: 27001926
Motil KJ, Fete M, Fete TJ
Am J Med Genet C Semin Med Genet 2016 Mar;172C(1):29-33. Epub 2016 Feb 1 doi: 10.1002/ajmg.c.31468. PMID: 27001925
Seven M, Güven A, Bozoğlu TM, Tolun A
Genet Couns 2015;26(2):195-204. PMID: 26349189
Garavelli L, Simonte G, Rosato S, Wischmeijer A, Albertini E, Guareschi E, Longo C, Albertini G, Gelmini C, Greco C, Errico S, Savino G, Pavanello M, Happle R, Unger S, Superti-Furga A, Grzeschik KH
Am J Med Genet A 2013 Jul;161A(7):1750-4. Epub 2013 May 21 doi: 10.1002/ajmg.a.35964. PMID: 23696273
Maalouf D, Mégarbané H, Chouery E, Nasr J, Badens C, Lacoste C, Grzeschik KH, Mégarbané A
Arch Dermatol 2012 Jan;148(1):85-8. doi: 10.1001/archdermatol.2011.343. PMID: 22250236

Recent systematic reviews

Wettke-Schäfer R, Kantner G
Hum Genet 1983;64(1):1-23. PMID: 6873941
Toro-Sola MA, Kistenmacher ML, Punnett HH, DiGeorge AM
Clin Genet 1975 Apr;7(4):325-7. PMID: 1126054

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