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Osteopathia striata with cranial sclerosis(OSCS)

MedGen UID:
96590
Concept ID:
C0432268
Disease or Syndrome
Synonyms: HYPEROSTOSIS GENERALISATA WITH STRIATIONS; OSCS; Osteopathia striata cranial sclerosis
SNOMED CT: Osteopathia striata with cranial sclerosis (254129003)
Modes of inheritance:
X-linked dominant inheritance
MedGen UID:
376232
Concept ID:
C1847879
Finding
Source: 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.
 
Gene (location): AMER1 (Xq11.2)
 
Monarch Initiative: MONDO:0010310
OMIM®: 300373
Orphanet: ORPHA2780

Disease characteristics

Excerpted from the GeneReview: Osteopathia Striata with Cranial Sclerosis
Most females with osteopathia striata with cranial sclerosis (OS-CS) present with macrocephaly and characteristic facial features (frontal bossing, hypertelorism, epicanthal folds, depressed nasal bridge, and prominent jaw). Approximately half have associated features including orofacial clefting and hearing loss, and a minority have some degree of developmental delay (usually mild). Radiographic findings of cranial sclerosis, sclerosis of long bones, and metaphyseal striations (in combination with macrocephaly) can be considered pathognomonic. Males can present with a mild or severe phenotype. Mildly affected males have clinical features similar to affected females, including macrocephaly, characteristic facial features, orofacial clefting, hearing loss, and mild-to-moderate learning delays. Mildly affected males are more likely than females to have congenital or musculoskeletal anomalies. Radiographic findings include cranial sclerosis and sclerosis of the long bones; Metaphyseal striations are more common in males who are mosaic for an AMER1 pathogenic variant. The severe phenotype manifests in males as a multiple-malformation syndrome, lethal in mid-to-late gestation, or in the neonatal period. Congenital malformations include skeletal defects (e.g., polysyndactyly, absent or hypoplastic fibulae), congenital heart disease, and brain, genitourinary, and gastrointestinal anomalies. Macrocephaly is not always present and longitudinal metaphyseal striations have not been observed in severely affected males, except for those who are mosaic for the AMER1 pathogenic variant. [from GeneReviews]
Authors:
Russell Gear  |  Ravi Savarirayan   view full author information

Additional description

From OMIM
Osteopathia striata with cranial sclerosis is an X-linked dominant sclerosing bone dysplasia that presents in females with macrocephaly, cleft palate, mild learning disabilities, sclerosis of the long bones and skull, and longitudinal striations visible on radiographs of the long bones, pelvis, and scapulae (Jenkins et al., 2009). In males, the disorder is usually associated with fetal or neonatal lethality. Occasional surviving males have, in addition to hyperostosis, cardiac, intestinal, and genitourinary malformations. Osteosclerosis in the cranial and facial bones leads to disfigurement and to disability due to pressure on cranial nerves, e.g., deafness. Osteopathia striata is a frequent feature of focal dermal hypoplasia (FDH; 305600). Although early reports of familial cases of this disorder appeared to suggest autosomal dominant inheritance (see, e.g., Horan and Beighton, 1978 and Konig et al., 1996), reappraisal of the literature (Behninger and Rott, 2000; Rott et al., 2003) and the finding of a molecular basis for the disorder by Jenkins et al. (2009) confirms that the inheritance pattern is X-linked dominant. Affected males who survive have a more severe phenotype than affected females, and sporadic male cases may result from somatic mosaicism (Behninger and Rott, 2000).  http://www.omim.org/entry/300373

Clinical features

From HPO
Multicystic kidney dysplasia
MedGen UID:
811388
Concept ID:
C3714581
Disease or Syndrome
Multicystic dysplasia of the kidney is characterized by multiple cysts of varying size in the kidney and the absence of a normal pelvicaliceal system. The condition is associated with ureteral or ureteropelvic atresia, and the affected kidney is nonfunctional.
Arachnodactyly
MedGen UID:
2047
Concept ID:
C0003706
Congenital Abnormality
Abnormally long and slender fingers ("spider fingers").
Clubfoot
MedGen UID:
3130
Concept ID:
C0009081
Congenital Abnormality
Clubfoot is a congenital limb deformity defined as fixation of the foot in cavus, adductus, varus, and equinus (i.e., inclined inwards, axially rotated outwards, and pointing downwards) with concomitant soft tissue abnormalities (Cardy et al., 2007). Clubfoot may occur in isolation or as part of a syndrome (e.g., diastrophic dysplasia, 222600). Clubfoot has been reported with deficiency of long bones and mirror-image polydactyly (Gurnett et al., 2008; Klopocki et al., 2012).
Flexion contracture of toe
MedGen UID:
237248
Concept ID:
C1406835
Finding
One or more bent (flexed) toe joints that cannot be straightened actively or passively.
Fibular hypoplasia
MedGen UID:
316909
Concept ID:
C1832119
Finding
Underdevelopment of the fibula.
Fibular aplasia
MedGen UID:
373034
Concept ID:
C1836186
Finding
Absence of the fibula.
Clinodactyly of the 5th finger
MedGen UID:
340456
Concept ID:
C1850049
Congenital Abnormality
Clinodactyly refers to a bending or curvature of the fifth finger in the radial direction (i.e., towards the 4th finger).
Patent ductus arteriosus
MedGen UID:
4415
Concept ID:
C0013274
Congenital Abnormality
In utero, the ductus arteriosus (DA) serves to divert ventricular output away from the lungs and toward the placenta by connecting the main pulmonary artery to the descending aorta. A patent ductus arteriosus (PDA) in the first 3 days of life is a physiologic shunt in healthy term and preterm newborn infants, and normally is substantially closed within about 24 hours after bith and completely closed after about three weeks. Failure of physiologcal closure is referred to a persistent or patent ductus arteriosus (PDA). Depending on the degree of left-to-right shunting, PDA can have clinical consequences.
Atrial septal defect
MedGen UID:
6753
Concept ID:
C0018817
Congenital Abnormality
Atrial septal defect (ASD) is a congenital abnormality of the interatrial septum that enables blood flow between the left and right atria via the interatrial septum.
Ventricular septal defect
MedGen UID:
42366
Concept ID:
C0018818
Congenital Abnormality
A hole between the two bottom chambers (ventricles) of the heart. The defect is centered around the most superior aspect of the ventricular septum.
Short stature
MedGen UID:
87607
Concept ID:
C0349588
Finding
A height below that which is expected according to age and gender norms. Although there is no universally accepted definition of short stature, many refer to "short stature" as height more than 2 standard deviations below the mean for age and gender (or below the 3rd percentile for age and gender dependent norms).
Failure to thrive
MedGen UID:
746019
Concept ID:
C2315100
Disease or Syndrome
Failure to thrive (FTT) refers to a child whose physical growth is substantially below the norm.
Imperforate anus
MedGen UID:
1997
Concept ID:
C0003466
Congenital Abnormality
Congenital absence of the anus, i.e., the opening at the bottom end of the intestinal tract.
Intestinal malrotation
MedGen UID:
113153
Concept ID:
C0221210
Congenital Abnormality
An abnormality of the intestinal rotation and fixation that normally occurs during the development of the gut. This can lead to volvulus, or twisting of the intestine that causes obstruction and necrosis.
Anal stenosis
MedGen UID:
82644
Concept ID:
C0262374
Anatomical Abnormality
Abnormal narrowing of the anal opening.
Gastroesophageal reflux
MedGen UID:
1368658
Concept ID:
C4317146
Finding
A condition in which the stomach contents leak backwards from the stomach into the esophagus through the lower esophageal sphincter.
Conductive hearing impairment
MedGen UID:
9163
Concept ID:
C0018777
Disease or Syndrome
An abnormality of vibrational conductance of sound to the inner ear leading to impairment of sensory perception of sound.
Microtia
MedGen UID:
57535
Concept ID:
C0152423
Congenital Abnormality
Underdevelopment of the external ear.
Low-set ears
MedGen UID:
65980
Concept ID:
C0239234
Congenital Abnormality
Upper insertion of the ear to the scalp below an imaginary horizontal line drawn between the inner canthi of the eye and extending posteriorly to the ear.
Posteriorly rotated ears
MedGen UID:
96566
Concept ID:
C0431478
Congenital Abnormality
A type of abnormal location of the ears in which the position of the ears is characterized by posterior rotation (the superior part of the ears is rotated towards the back of the head, and the inferior part of the ears towards the front).
Overfolded helix
MedGen UID:
325239
Concept ID:
C1837731
Finding
A condition in which the helix is folded over to a greater degree than normal. That is, excessive curling of the helix edge, whereby the free edge is parallel to the plane of the ear.
Headache
MedGen UID:
9149
Concept ID:
C0018681
Sign or Symptom
Cephalgia, or pain sensed in various parts of the head, not confined to the area of distribution of any nerve.
Hydrocephalus
MedGen UID:
9335
Concept ID:
C0020255
Disease or Syndrome
Hydrocephalus is an active distension of the ventricular system of the brain resulting from inadequate passage of CSF from its point of production within the cerebral ventricles to its point of absorption into the systemic circulation.
Intellectual disability, mild
MedGen UID:
10044
Concept ID:
C0026106
Mental or Behavioral Dysfunction
Mild intellectual disability is defined as an intelligence quotient (IQ) in the range of 50-69.
Seizure
MedGen UID:
20693
Concept ID:
C0036572
Sign or Symptom
A seizure is an intermittent abnormality of nervous system physiology characterized by a transient occurrence of signs and/or symptoms due to abnormal excessive or synchronous neuronal activity in the brain.
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.
Partial agenesis of the corpus callosum
MedGen UID:
98127
Concept ID:
C0431368
Congenital Abnormality
A partial failure of the development of the corpus callosum.
Delayed speech and language development
MedGen UID:
105318
Concept ID:
C0454644
Finding
A degree of language development that is significantly below the norm for a child of a specified age.
Micrognathia
MedGen UID:
44428
Concept ID:
C0025990
Congenital Abnormality
Developmental hypoplasia of the mandible.
Hypotonia
MedGen UID:
10133
Concept ID:
C0026827
Finding
Hypotonia is an abnormally low muscle tone (the amount of tension or resistance to movement in a muscle). Even when relaxed, muscles have a continuous and passive partial contraction which provides some resistance to passive stretching. Hypotonia thus manifests as diminished resistance to passive stretching. Hypotonia is not the same as muscle weakness, although the two conditions can co-exist.
Scoliosis
MedGen UID:
11348
Concept ID:
C0036439
Disease or Syndrome
The presence of an abnormal lateral curvature of the spine.
Joint contracture of the hand
MedGen UID:
56382
Concept ID:
C0158113
Finding
Contractures of one ore more joints of the hands meaning chronic loss of joint motion due to structural changes in non-bony tissue.
Frontal bossing
MedGen UID:
67453
Concept ID:
C0221354
Congenital Abnormality
Bilateral bulging of the lateral frontal bone prominences with relative sparing of the midline.
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.
Facial palsy
MedGen UID:
87660
Concept ID:
C0376175
Disease or Syndrome
Facial nerve palsy is a dysfunction of cranial nerve VII (the facial nerve) that results in inability to control facial muscles on the affected side with weakness of the muscles of facial expression and eye closure. This can either be present in unilateral or bilateral form.
Large fontanelles
MedGen UID:
105329
Concept ID:
C0456132
Finding
In newborns, the two frontal bones, two parietal bones, and one occipital bone are joined by fibrous sutures, which form a small posterior fontanelle, and a larger, diamond-shaped anterior fontanelle. These regions allow for the skull to pass the birth canal and for later growth. The fontanelles gradually ossify, whereby the posterior fontanelle usually closes by eight weeks and the anterior fontanelle by the 9th to 16th month of age. Large fontanelles are diagnosed if the fontanelles are larger than age-dependent norms.
Camptodactyly
MedGen UID:
195780
Concept ID:
C0685409
Congenital Abnormality
The distal interphalangeal joint and/or the proximal interphalangeal joint of the fingers or toes cannot be extended to 180 degrees by either active or passive extension.
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).
Broad ribs
MedGen UID:
336390
Concept ID:
C1848654
Finding
Increased width of ribs
Sclerosis of skull base
MedGen UID:
377095
Concept ID:
C1851714
Finding
Increased bone density of the skull base without significant changes in bony contour.
Thoracolumbar kyphosis
MedGen UID:
383679
Concept ID:
C1855418
Anatomical Abnormality
Hyperconvexity of the thoracolumbar spine producing a rounded or humped appearance.
Generalized hypotonia
MedGen UID:
346841
Concept ID:
C1858120
Finding
Generalized muscular hypotonia (abnormally low muscle tone).
Thickened calvaria
MedGen UID:
346823
Concept ID:
C1858452
Finding
The presence of an abnormally thick calvaria.
Pectus excavatum
MedGen UID:
781174
Concept ID:
C2051831
Finding
A defect of the chest wall characterized by a depression of the sternum, giving the chest ("pectus") a caved-in ("excavatum") appearance.
Macrocephaly
MedGen UID:
745757
Concept ID:
C2243051
Finding
Occipitofrontal (head) circumference greater than 97th centile compared to appropriate, age matched, sex-matched normal standards. Alternatively, a apparently increased size of the cranium.
Paranasal sinus hypoplasia
MedGen UID:
440721
Concept ID:
C2749161
Finding
Underdevelopment of the paranasal sinuses.
Delayed closure of the anterior fontanelle
MedGen UID:
825928
Concept ID:
C3840083
Finding
A delay in closure (ossification) of the anterior fontanelle, which generally undergoes closure around the 18th month of life.
Straight clavicles
MedGen UID:
870568
Concept ID:
C4025016
Anatomical Abnormality
An abnormally straight configuration of the clavicle, a tubular bone which normally is doubly curved .
Craniofacial osteosclerosis
MedGen UID:
892778
Concept ID:
C4025193
Anatomical Abnormality
Abnormally increased density of craniofacial bone tissue.
Apnea
MedGen UID:
2009
Concept ID:
C0003578
Sign or Symptom
Lack of breathing with no movement of the respiratory muscles and no exchange of air in the lungs. This term refers to a disposition to have recurrent episodes of apnea rather than to a single event.
Laryngeal web
MedGen UID:
84297
Concept ID:
C0281890
Disease or Syndrome
A membrane-like structure that extends across the laryngeal lumen close to the level of the vocal cords.
Tracheomalacia
MedGen UID:
215296
Concept ID:
C0948187
Disease or Syndrome
Congenital tracheomalacia is a rare condition where the trachea is soft and flexible causing the tracheal wall to collapse when exhaling, coughing or crying, that usually presents in infancy, and that is characterized by stridor and noisy breathing or upper respiratory infections. Tracheomalacia improves by the age of 18-24 months.
Hypernasal speech
MedGen UID:
107884
Concept ID:
C0566620
Finding
A type of speech characterized by the presence of an abnormally increased nasal airflow during speech associated with structural abnormality of the nasal passages.
Cleft upper lip
MedGen UID:
40327
Concept ID:
C0008924
Congenital Abnormality
A gap or groove in the upper lip. This is a congenital defect resulting from nonfusion of tissues of the lip during embryonal development.
Dental malocclusion
MedGen UID:
9869
Concept ID:
C0024636
Anatomical Abnormality
Dental malocclusion refers to an abnormality of the occlusion, or alignment, of the teeth and the way the upper and lower teeth fit together, resulting in overcrowding of teeth or in abnormal bite patterns.
Natal tooth
MedGen UID:
10268
Concept ID:
C0027443
Finding
A tooth present at birth or erupting within the first month of life.
Isolated Pierre-Robin syndrome
MedGen UID:
19310
Concept ID:
C0031900
Congenital Abnormality
Pierre Robin sequence is a craniofacial anomaly comprising mandibular hypoplasia, cleft secondary palate, and glossoptosis leading to life-threatening obstructive apnea and feeding difficulaties during the neonatal period (summary by Tan et al., 2013).
Dental crowding
MedGen UID:
11850
Concept ID:
C0040433
Finding
Changes in alignment of teeth in the dental arch
Webbed neck
MedGen UID:
113154
Concept ID:
C0221217
Congenital Abnormality
Pterygium colli is a congenital skin fold that runs along the sides of the neck down to the shoulders. It involves an ectopic fibrotic facial band superficial to the trapezius muscle. Excess hair-bearing skin is also present and extends down the cervical region well beyond the normal hairline.
High palate
MedGen UID:
66814
Concept ID:
C0240635
Congenital Abnormality
Height of the palate more than 2 SD above the mean (objective) or palatal height at the level of the first permanent molar more than twice the height of the teeth (subjective).
Epicanthus
MedGen UID:
151862
Concept ID:
C0678230
Congenital Abnormality
Epicanthus is a condition in which a fold of skin stretches from the upper to the lower eyelid, partially covering the inner canthus. Usher (1935) noted that epicanthus is a normal finding in the fetus of all races. Epicanthus also occurs in association with hereditary ptosis (110100).
Thick lower lip vermilion
MedGen UID:
326567
Concept ID:
C1839739
Finding
Increased thickness of the lower lip, leading to a prominent appearance of the lower lip. The height of the vermilion of the lower lip in the midline is more than 2 SD above the mean. Alternatively, an apparently increased height of the vermilion of the lower lip in the frontal view (subjective).
Narrow forehead
MedGen UID:
326956
Concept ID:
C1839758
Finding
Width of the forehead or distance between the frontotemporales is more than two standard deviations below the mean (objective); or apparently narrow intertemporal region (subjective).
Wide nasal bridge
MedGen UID:
341441
Concept ID:
C1849367
Finding
Increased breadth of the nasal bridge (and with it, the nasal root).
Cleft 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).
Bifid uvula
MedGen UID:
1646931
Concept ID:
C4551488
Congenital Abnormality
Uvula separated into two parts most easily seen at the tip.
Polyhydramnios
MedGen UID:
6936
Concept ID:
C0020224
Pathologic Function
The presence of excess amniotic fluid in the uterus during pregnancy.
Oligohydramnios
MedGen UID:
86974
Concept ID:
C0079924
Pathologic Function
Diminished amniotic fluid volume in pregnancy.
Wide intermamillary distance
MedGen UID:
473489
Concept ID:
C1827524
Finding
A larger than usual distance between the left and right nipple.
Hypertelorism
MedGen UID:
9373
Concept ID:
C0020534
Finding
Although hypertelorism means an excessive distance between any paired organs (e.g., the nipples), the use of the word has come to be confined to ocular hypertelorism. Hypertelorism occurs as an isolated feature and is also a feature of many syndromes, e.g., Opitz G syndrome (see 300000), Greig cephalopolysyndactyly (175700), and Noonan syndrome (163950) (summary by Cohen et al., 1995).

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVOsteopathia striata with cranial sclerosis
Follow this link to review classifications for Osteopathia striata with cranial sclerosis in Orphanet.

Recent clinical studies

Etiology

Scrimshaw L, Gorman K, Mansour S, Ganesan V, Sabir A
Clin Dysmorphol 2024 Jan 1;33(1):31-37. Epub 2023 Nov 29 doi: 10.1097/MCD.0000000000000479. PMID: 38037992
Ng DW
J Pediatr Health Care 2017 Jul-Aug;31(4):511-516. Epub 2017 Apr 5 doi: 10.1016/j.pedhc.2017.01.003. PMID: 28390856
Fradin M, Collet C, Ract I, Odent S, Guggenbuhl P
Joint Bone Spine 2017 Jan;84(1):87-90. Epub 2016 Jun 28 doi: 10.1016/j.jbspin.2016.04.012. PMID: 27369646
Perdu B, de Freitas F, Frints SG, Schouten M, Schrander-Stumpel C, Barbosa M, Pinto-Basto J, Reis-Lima M, de Vernejoul MC, Becker K, Freckmann ML, Keymolen K, Haan E, Savarirayan R, Koenig R, Zabel B, Vanhoenacker FM, Van Hul W
J Bone Miner Res 2010 Jan;25(1):82-90. doi: 10.1359/jbmr.090707. PMID: 20209645
Lüerssen K, Ptok M
Eur Arch Otorhinolaryngol 2006 Feb;263(2):123-6. Epub 2005 Jul 12 doi: 10.1007/s00405-005-0972-8. PMID: 16010569

Diagnosis

Hu JCW, Abdelhakim AH, North VS, Garcia MD, Lustig MJ, Kazim M, Odel JG
Ophthalmic Genet 2023 Oct;44(5):496-500. Epub 2022 Nov 29 doi: 10.1080/13816810.2022.2144902. PMID: 36446546
Heikoop D, Brick L, Chitayat D, Colaiacovo S, Dupuis L, Faghfoury H, Goobie S, Mendoza R, Napier M, Nowaczyk M, Oh R, Silver J, Prasad C, Saleh M
Am J Med Genet A 2021 Dec;185(12):3793-3803. Epub 2021 Aug 20 doi: 10.1002/ajmg.a.62452. PMID: 34414661
Holman SK, Daniel P, Jenkins ZA, Herron RL, Morgan T, Savarirayan R, Chow CW, Bohring A, Mosel A, Lacombe D, Steiner B, Schmitt-Mechelke T, Schroter B, Raas-Rothschild A, Miñaur SG, Porteous M, Parker M, Quarrell O, Tapon D, Cormier-Daire V, Mansour S, Nash R, Bindoff LA, Fiskerstrand T, Robertson SP
Am J Med Genet A 2011 Oct;155A(10):2397-408. doi: 10.1002/ajmg.a.34178. PMID: 22043478
Perdu B, de Freitas F, Frints SG, Schouten M, Schrander-Stumpel C, Barbosa M, Pinto-Basto J, Reis-Lima M, de Vernejoul MC, Becker K, Freckmann ML, Keymolen K, Haan E, Savarirayan R, Koenig R, Zabel B, Vanhoenacker FM, Van Hul W
J Bone Miner Res 2010 Jan;25(1):82-90. doi: 10.1359/jbmr.090707. PMID: 20209645
Behninger C, Rott HD
Genet Couns 2000;11(2):157-67. PMID: 10893667

Therapy

Katsevman GA, Turner RC, Lucke-Wold BP, Sedney CL, Bhatia S
Acta Neurochir (Wien) 2016 Jun;158(6):1115-20. Epub 2016 Apr 11 doi: 10.1007/s00701-016-2794-4. PMID: 27068044
Rott HD, Krieg P, Rütschle H, Kraus C
Genet Couns 2003;14(3):281-8. PMID: 14577672
Viot G, Lacombe D, David A, Mathieu M, de Broca A, Faivre L, Gigarel N, Munnich A, Lyonnet S, Le Merrer M, Cormier-Daire V
Am J Med Genet 2002 Jan 1;107(1):1-4. doi: 10.1002/ajmg.10028. PMID: 11807859
Kondoh T, Yoshinaga M, Matsumoto T, Takayanagi T, Uetani M, Kubota T, Nishimura G, Moriuchi H
Pediatr Radiol 2001 Sep;31(9):659-62. doi: 10.1007/s002470100486. PMID: 11512010

Prognosis

Wu J, Li X, Chen S
J Int Med Res 2022 Jul;50(7):3000605221108085. doi: 10.1177/03000605221108085. PMID: 35796496Free PMC Article
Ng DW
J Pediatr Health Care 2017 Jul-Aug;31(4):511-516. Epub 2017 Apr 5 doi: 10.1016/j.pedhc.2017.01.003. PMID: 28390856
Deniz FE, Köseoğlu RD
Acta Neurochir (Wien) 2007 Aug;149(8):811-5; discussion 815. Epub 2007 Jun 8 doi: 10.1007/s00701-007-1182-5. PMID: 17558457
Lüerssen K, Ptok M
Eur Arch Otorhinolaryngol 2006 Feb;263(2):123-6. Epub 2005 Jul 12 doi: 10.1007/s00405-005-0972-8. PMID: 16010569
Viot G, Lacombe D, David A, Mathieu M, de Broca A, Faivre L, Gigarel N, Munnich A, Lyonnet S, Le Merrer M, Cormier-Daire V
Am J Med Genet 2002 Jan 1;107(1):1-4. doi: 10.1002/ajmg.10028. PMID: 11807859

Clinical prediction guides

Jeong C, Kim M, Yim J, Park IJ, Lee J, Lee J
Medicine (Baltimore) 2021 Oct 8;100(40):e27346. doi: 10.1097/MD.0000000000027346. PMID: 34622833Free PMC Article
O'Byrne JJ, Phelan E, Steenackers E, van Hul W, Reardon W
Clin Dysmorphol 2016 Apr;25(2):45-9. doi: 10.1097/MCD.0000000000000116. PMID: 26886897
Holman SK, Daniel P, Jenkins ZA, Herron RL, Morgan T, Savarirayan R, Chow CW, Bohring A, Mosel A, Lacombe D, Steiner B, Schmitt-Mechelke T, Schroter B, Raas-Rothschild A, Miñaur SG, Porteous M, Parker M, Quarrell O, Tapon D, Cormier-Daire V, Mansour S, Nash R, Bindoff LA, Fiskerstrand T, Robertson SP
Am J Med Genet A 2011 Oct;155A(10):2397-408. doi: 10.1002/ajmg.a.34178. PMID: 22043478
Viot G, Lacombe D, David A, Mathieu M, de Broca A, Faivre L, Gigarel N, Munnich A, Lyonnet S, Le Merrer M, Cormier-Daire V
Am J Med Genet 2002 Jan 1;107(1):1-4. doi: 10.1002/ajmg.10028. PMID: 11807859
Behninger C, Rott HD
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