Format

Send to:

Choose Destination

Links from PubMed

Baller-Gerold syndrome(BGS)

MedGen UID:
120532
Concept ID:
C0265308
Disease or Syndrome
Synonyms: BGS; Craniosynostosis radial aplasia syndrome; Craniosynostosis with radial defects; RECQL4-Related Disorders
Modes of inheritance:
Autosomal recessive inheritance
MedGen UID:
141025
Concept ID:
C0441748
Intellectual Product
Sources: HPO, OMIM, Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in homozygotes. In the context of medical genetics, autosomal recessive disorders manifest in homozygotes (with two copies of the mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele).
Autosomal recessive inheritance (HPO, OMIM, Orphanet)
SNOMED CT: Baller-Gerold syndrome (77608001); Craniosynostosis-radial aplasia syndrome (77608001)
 
Gene (location): RECQL4 (8q24.3)
OMIM®: 218600

Disease characteristics

Excerpted from the GeneReview: Baller-Gerold Syndrome
Baller-Gerold syndrome (BGS) is characterized by coronal craniosynostosis, manifest as abnormal shape of the skull (brachycephaly) with ocular proptosis and bulging forehead; radial ray defect, manifest as oligodactyly (reduction in number of digits), aplasia or hypoplasia of the thumb, and/or aplasia or hypoplasia of the radius; growth retardation and poikiloderma. Findings in individuals with BGS overlap with those of Rothmund-Thomson syndrome (RTS) and RAPADILINO syndrome, also caused by pathogenic variants in RECQL4. RTS is characterized by poikiloderma; sparse hair, eyelashes, and/or eyebrows/lashes; small stature; skeletal and dental abnormalities; cataracts; and an increased risk for cancer, especially osteosarcoma. RAPADILINO syndrome is an acronym for radial ray defect; patellae hypoplasia or aplasia and cleft or highly arched palate; diarrhea and dislocated joints; little size and limb malformation; nose slender and normal intelligence. [from GeneReviews]
Authors:
Lionel Van Maldergem   view full author information

Additional description

From GHR
Baller-Gerold syndrome is a rare condition characterized by the premature fusion of certain skull bones (craniosynostosis) and abnormalities of bones in the arms and hands.People with Baller-Gerold syndrome have prematurely fused skull bones, most often along the coronal suture, the growth line that goes over the head from ear to ear. Other sutures of the skull may be fused as well. These changes result in an abnormally shaped head, a prominent forehead, and bulging eyes with shallow eye sockets (ocular proptosis). Other distinctive facial features can include widely spaced eyes (hypertelorism), a small mouth, and a saddle-shaped or underdeveloped nose.Bone abnormalities in the hands include missing fingers (oligodactyly) and malformed or absent thumbs. Partial or complete absence of bones in the forearm is also common. Together, these hand and arm abnormalities are called radial ray malformations.People with Baller-Gerold syndrome may have a variety of additional signs and symptoms including slow growth beginning in infancy, small stature, and malformed or missing kneecaps (patellae). A skin rash often appears on the arms and legs a few months after birth. This rash spreads over time, causing patchy changes in skin coloring, areas of thinning skin (atrophy), and small clusters of blood vessels just under the skin (telangiectases). These chronic skin problems are collectively known as poikiloderma.The varied signs and symptoms of Baller-Gerold syndrome overlap with features of other disorders, namely Rothmund-Thomson syndrome and RAPADILINO syndrome. These syndromes are also characterized by radial ray defects, skeletal abnormalities, and slow growth. All of these conditions can be caused by mutations in the same gene. Based on these similarities, researchers are investigating whether Baller-Gerold syndrome, Rothmund-Thomson syndrome, and RAPADILINO syndrome are separate disorders or part of a single syndrome with overlapping signs and symptoms.  https://ghr.nlm.nih.gov/condition/baller-gerold-syndrome

Clinical features

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 (145410), Greig cephalopolysyndactyly (175700), and Noonan syndrome (163950) (summary by Cohen et al., 1995).
Myopia
MedGen UID:
44558
Concept ID:
C0027092
Disease or Syndrome
An abnormality of refraction characterized by the ability to see objects nearby clearly, while objects in the distance appear blurry.
Optic atrophy
MedGen UID:
18180
Concept ID:
C0029124
Disease or Syndrome
Atrophy of the optic nerve. Optic atrophy results from the death of the retinal ganglion cell axons that comprise the optic nerve and manifesting as a pale optic nerve on fundoscopy.
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.
Midface capillary hemangioma
MedGen UID:
336589
Concept ID:
C1849377
Neoplastic Process
Nephropathy
MedGen UID:
9635
Concept ID:
C0022658
Disease or Syndrome
You have two kidneys, each about the size of your fist. They are near the middle of your back, just below the rib cage. Inside each kidney there are about a million tiny structures called nephrons. They filter your blood. They remove wastes and extra water, which become urine. The urine flows through tubes called ureters. It goes to your bladder, which stores the urine until you go to the bathroom. Most kidney diseases attack the nephrons. This damage may leave kidneys unable to remove wastes. Causes can include genetic problems, injuries, or medicines. You have a higher risk of kidney disease if you have diabetes, high blood pressure, or a close family member with kidney disease. Chronic kidney disease damages the nephrons slowly over several years. Other kidney problems include. -Cancer. -Cysts. -Stones. -Infections. Your doctor can do blood and urine tests to check if you have kidney disease. If your kidneys fail, you will need dialysis or a kidney transplant. NIH: National Institute of Diabetes and Digestive and Kidney Diseases.
Rectovaginal fistula
MedGen UID:
11152
Concept ID:
C0034895
Finding
The presence of a fistula between the vagina and the rectum.
Perineal fistula
MedGen UID:
107555
Concept ID:
C0561921
Anatomical Abnormality
The presence of a fistula between the bowel and the perineum.
Carpal synostosis
MedGen UID:
98468
Concept ID:
C0431863
Congenital Abnormality
Synostosis (bony fusion) involving one or more bones of the carpus (scaphoid, lunate, triquetrum, trapezium, trapezoid, capitate, hamate, pisiform).
Hypoplasia of the radius
MedGen UID:
672334
Concept ID:
C0685381
Congenital Abnormality
A congenital deformity characterized by the presence of hypoplastic radius. It is usually associated with club hand deformity.
Short humerus
MedGen UID:
316907
Concept ID:
C1832117
Finding
Underdevelopment of the humerus.
Carpal bone aplasia
MedGen UID:
324464
Concept ID:
C1836219
Finding
Congenital absence of a carpal bone.
Patellar hypoplasia
MedGen UID:
327021
Concept ID:
C1840068
Finding
Underdevelopment of the patella.
Aplasia of metacarpal bones
MedGen UID:
335431
Concept ID:
C1846473
Finding
Developmental defect associated with absence of one or more metacarpal bones.
Absent radius
MedGen UID:
340290
Concept ID:
C1849314
Finding
Missing radius bone associated with congenital failure of development.
Limited elbow movement
MedGen UID:
337930
Concept ID:
C1849955
Finding
Fryns Hofkens Fabry syndrome
MedGen UID:
395934
Concept ID:
C1860614
Finding
Underdevelopment of the ulna.
Ulnar bowing
MedGen UID:
356099
Concept ID:
C1865847
Finding
Bending of the diaphysis (shaft) of the ulna.
Aplasia/Hypoplasia of the thumb
MedGen UID:
465975
Concept ID:
C3179508
Finding
Hypoplastic/small or absent thumb.
Aphalangy of the hands
MedGen UID:
870660
Concept ID:
C4025114
Anatomical Abnormality
Absence of a digit or of one or more phalanges of a finger.
Heart, malformation of
MedGen UID:
6748
Concept ID:
C0018798
Congenital Abnormality
A congenital heart defect is a problem with the structure of the heart. It is present at birth. Congenital heart defects are the most common type of birth defect. The defects can involve the walls of the heart, the valves of the heart, and the arteries and veins near the heart. They can disrupt the normal flow of blood through the heart. The blood flow can slow down, go in the wrong direction or to the wrong place, or be blocked completely. Doctors use a physical exam and special heart tests to diagnose congenital heart defects. They often find severe defects during pregnancy or soon after birth. Signs and symptoms of severe defects in newborns include. -Rapid breathing. -Cyanosis - a bluish tint to the skin, lips, and fingernails. -Fatigue. -Poor blood circulation. Many congenital heart defects cause few or no signs and symptoms. They are often not diagnosed until children are older. Many children with congenital heart defects don't need treatment, but others do. Treatment can include medicines, catheter procedures, surgery, and heart transplants. The treatment depends on the type of the defect, how severe it is, and a child's age, size, and general health. NIH: National Heart, Lung, and Blood Institute.
Midface capillary hemangioma
MedGen UID:
336589
Concept ID:
C1849377
Neoplastic Process
Anomalous splenoportal venous system
MedGen UID:
446645
Concept ID:
CN004608
Finding
Short stature
MedGen UID:
87607
Concept ID:
C0349588
Finding
Height greater than two standard deviations below the mean of the appropriate reference population for the age and sex of the individual.
Imperforate anus
MedGen UID:
1997
Concept ID:
C0003466
Congenital Abnormality
A congenital abnormality characterized by the persistence of the anal membrane, resulting in a thin membrane covering the normal ANAL CANAL. Imperforation is not always complete and is treated by surgery in infancy. This defect is often associated with NEURAL TUBE DEFECTS; MENTAL RETARDATION; and DOWN SYNDROME.
Rectovaginal fistula
MedGen UID:
11152
Concept ID:
C0034895
Finding
The presence of a fistula between the vagina and the rectum.
Anteriorly placed anus
MedGen UID:
333160
Concept ID:
C1838705
Finding
Anterior malposition of the anus.
Anomalous splenoportal venous system
MedGen UID:
446645
Concept ID:
CN004608
Finding
Conductive hearing impairment
MedGen UID:
9163
Concept ID:
C0018777
Disease or Syndrome
Hearing loss due to interference with the mechanical reception or amplification of sound to the COCHLEA. The interference is in the outer or middle ear involving the EAR CANAL; TYMPANIC MEMBRANE; or EAR OSSICLES.
Low-set, posteriorly rotated ears
MedGen UID:
387834
Concept ID:
C1857486
Finding
Ears that are low-set (HP:0000369) and posteriorly rotated (HP:0000358).
Seizure Disorders
MedGen UID:
4506
Concept ID:
C0014544
Disease or Syndrome
Epilepsy is a brain disorder that causes people to have recurring seizures. The seizures happen when clusters of nerve cells, or neurons, in the brain send out the wrong signals. People may have strange sensations and emotions or behave strangely. They may have violent muscle spasms or lose consciousness. Epilepsy has many possible causes, including illness, brain injury, and abnormal brain development. In many cases, the cause is unknown. Doctors use brain scans and other tests to diagnose epilepsy. It is important to start treatment right away. There is no cure for epilepsy, but medicines can control seizures for most people. When medicines are not working well, surgery or implanted devices such as vagus nerve stimulators may help. Special diets can help some children with epilepsy. NIH: National Institute of Neurological Disorders and Stroke.
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.
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). Also see mirror movements-1 and/or agenesis of the corpus callosum (MRMV1; 157600). 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.
Polymicrogyria
MedGen UID:
78605
Concept ID:
C0266464
Congenital Abnormality
A congenital abnormality of the cerebral hemisphere characterized by an excessive number of small gyri (convolutions) on the surface of the brain.
Intellectual disability
MedGen UID:
811461
Concept ID:
C3714756
Mental or Behavioral Dysfunction
Subnormal intellectual functioning which originates during the developmental period. This has multiple potential etiologies, including genetic defects and perinatal insults. Intelligence quotient (IQ) scores are commonly used to determine whether an individual has an intellectual disability. IQ scores between 70 and 79 are in the borderline range. Scores below 67 are in the disabled range. (from Joynt, Clinical Neurology, 1992, Ch55, p28)
Nephropathy
MedGen UID:
9635
Concept ID:
C0022658
Disease or Syndrome
You have two kidneys, each about the size of your fist. They are near the middle of your back, just below the rib cage. Inside each kidney there are about a million tiny structures called nephrons. They filter your blood. They remove wastes and extra water, which become urine. The urine flows through tubes called ureters. It goes to your bladder, which stores the urine until you go to the bathroom. Most kidney diseases attack the nephrons. This damage may leave kidneys unable to remove wastes. Causes can include genetic problems, injuries, or medicines. You have a higher risk of kidney disease if you have diabetes, high blood pressure, or a close family member with kidney disease. Chronic kidney disease damages the nephrons slowly over several years. Other kidney problems include. -Cancer. -Cysts. -Stones. -Infections. Your doctor can do blood and urine tests to check if you have kidney disease. If your kidneys fail, you will need dialysis or a kidney transplant. NIH: National Institute of Diabetes and Digestive and Kidney Diseases.
Rectovaginal fistula
MedGen UID:
11152
Concept ID:
C0034895
Finding
The presence of a fistula between the vagina and the rectum.
Perineal fistula
MedGen UID:
107555
Concept ID:
C0561921
Anatomical Abnormality
The presence of a fistula between the bowel and the perineum.
Micrognathia
MedGen UID:
44428
Concept ID:
C0025990
Congenital Abnormality
Developmental hypoplasia of the mandible.
Scoliosis
MedGen UID:
21278
Concept ID:
C0037932
Finding
The presence of an abnormal lateral curvature of the spine.
Abnormality of the vertebrae
MedGen UID:
510645
Concept ID:
C0158775
Congenital Abnormality
An abnormality of one or more of the vertebrae.
Carpal synostosis
MedGen UID:
98468
Concept ID:
C0431863
Congenital Abnormality
Synostosis (bony fusion) involving one or more bones of the carpus (scaphoid, lunate, triquetrum, trapezium, trapezoid, capitate, hamate, pisiform).
Sagittal craniosynostosis
MedGen UID:
140921
Concept ID:
C0432123
Congenital Abnormality
A kind of craniosynostosis affecting the sagittal suture.
Hypoplasia of the radius
MedGen UID:
672334
Concept ID:
C0685381
Congenital Abnormality
A congenital deformity characterized by the presence of hypoplastic radius. It is usually associated with club hand deformity.
Short humerus
MedGen UID:
316907
Concept ID:
C1832117
Finding
Underdevelopment of the humerus.
Craniosynostosis 4
MedGen UID:
322167
Concept ID:
C1833340
Disease or Syndrome
Craniosynostosis is a primary abnormality of skull growth involving premature fusion of the cranial sutures such that the growth velocity of the skull often cannot match that of the developing brain. This produces skull deformity and, in some cases, raises intracranial pressure, which must be treated promptly to avoid permanent neurodevelopmental disability (summary by Fitzpatrick, 2013). Craniosynostosis-4 includes lambdoid, sagittal, metopic, coronal, and multisuture forms. For a discussion of genetic heterogeneity of craniosynostosis, see CRS1 (123100).
Carpal bone aplasia
MedGen UID:
324464
Concept ID:
C1836219
Finding
Congenital absence of a carpal bone.
Patellar hypoplasia
MedGen UID:
327021
Concept ID:
C1840068
Finding
Underdevelopment of the patella.
Rib fusion
MedGen UID:
336769
Concept ID:
C1844749
Finding
Complete or partial merging of adjacent ribs.
Aplasia of metacarpal bones
MedGen UID:
335431
Concept ID:
C1846473
Finding
Developmental defect associated with absence of one or more metacarpal bones.
Absent radius
MedGen UID:
340290
Concept ID:
C1849314
Finding
Missing radius bone associated with congenital failure of development.
Limited elbow movement
MedGen UID:
337930
Concept ID:
C1849955
Finding
Limited shoulder movement
MedGen UID:
341979
Concept ID:
C1851313
Finding
A limitation of the range of movement of the shoulder joint.
Coronal craniosynostosis
MedGen UID:
344694
Concept ID:
C1856266
Disease or Syndrome
Premature closure of the coronal suture of skull.
Brachyturricephaly
MedGen UID:
387833
Concept ID:
C1857484
Finding
Fryns Hofkens Fabry syndrome
MedGen UID:
395934
Concept ID:
C1860614
Finding
Underdevelopment of the ulna.
Ulnar bowing
MedGen UID:
356099
Concept ID:
C1865847
Finding
Bending of the diaphysis (shaft) of the ulna.
Aplasia/Hypoplasia of the thumb
MedGen UID:
465975
Concept ID:
C3179508
Finding
Hypoplastic/small or absent thumb.
Bicoronal synostosis
MedGen UID:
866810
Concept ID:
C4021164
Congenital Abnormality
Synostosis affecting the right and the left coronal suture.
Aphalangy of the hands
MedGen UID:
870660
Concept ID:
C4025114
Anatomical Abnormality
Absence of a digit or of one or more phalanges of a finger.
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 (145410), Greig cephalopolysyndactyly (175700), and Noonan syndrome (163950) (summary by Cohen et al., 1995).
Micrognathia
MedGen UID:
44428
Concept ID:
C0025990
Congenital Abnormality
Developmental hypoplasia of the mandible.
Narrow mouth
MedGen UID:
44435
Concept ID:
C0026034
Congenital Abnormality
A congenital defect in which the mouth is unusually small. (Dorland, 27th ed)
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).
Cleft uvula
MedGen UID:
75600
Concept ID:
C0266122
Congenital Abnormality
Uvula separated into two parts most easily seen at the tip.
Downslanted palpebral fissures
MedGen UID:
98391
Concept ID:
C0423110
Finding
The palpebral fissure inclination is more than two standard deviations below the mean.
Sagittal craniosynostosis
MedGen UID:
140921
Concept ID:
C0432123
Congenital Abnormality
A kind of craniosynostosis affecting the sagittal suture.
Choanal stenosis
MedGen UID:
108427
Concept ID:
C0584837
Finding
Abnormal narrowing of the choana (the posterior nasal aperture).
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).
Craniosynostosis 4
MedGen UID:
322167
Concept ID:
C1833340
Disease or Syndrome
Craniosynostosis is a primary abnormality of skull growth involving premature fusion of the cranial sutures such that the growth velocity of the skull often cannot match that of the developing brain. This produces skull deformity and, in some cases, raises intracranial pressure, which must be treated promptly to avoid permanent neurodevelopmental disability (summary by Fitzpatrick, 2013). Craniosynostosis-4 includes lambdoid, sagittal, metopic, coronal, and multisuture forms. For a discussion of genetic heterogeneity of craniosynostosis, see CRS1 (123100).
Underdeveloped nasal alae
MedGen UID:
322332
Concept ID:
C1834055
Finding
Thinned, deficient, or excessively arched ala nasi.
Midface capillary hemangioma
MedGen UID:
336589
Concept ID:
C1849377
Neoplastic Process
Prominent nasal bridge
MedGen UID:
343051
Concept ID:
C1854113
Finding
Anterior positioning of the nasal root in comparison to the usual positioning for age.
Coronal craniosynostosis
MedGen UID:
344694
Concept ID:
C1856266
Disease or Syndrome
Premature closure of the coronal suture of skull.
Brachyturricephaly
MedGen UID:
387833
Concept ID:
C1857484
Finding
Flat forehead
MedGen UID:
347463
Concept ID:
C1857485
Finding
A forehead with abnormal flatness.
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).
Bicoronal synostosis
MedGen UID:
866810
Concept ID:
C4021164
Congenital Abnormality
Synostosis affecting the right and the left coronal suture.

Recent clinical studies

Etiology

Cao DH, Mu K, Liu DN, Sun JL, Bai XZ, Zhang N, Qiu GB, Ma XW
Genet Mol Res 2015 May 11;14(2):4757-66. doi: 10.4238/2015.May.11.8. PMID: 25966250
Ceylan A, Peker E, Dogan M, Tuncer O, Kirimi E
Genet Couns 2011;22(1):69-74. PMID: 21614991
Ozdemir OM, Kiliç I, Ozsari T, Kiliç BA, Faivre L, Aral B, Gürses D, Semerci CN
Turk J Pediatr 2009 Nov-Dec;51(6):631-6. PMID: 20196403
Seto ML, Lee SJ, Sze RW, Cunningham ML
Am J Med Genet 2001 Dec 15;104(4):323-30. PMID: 11754069
Gripp KW, Stolle CA, Celle L, McDonald-McGinn DM, Whitaker LA, Zackai EH
Am J Med Genet 1999 Jan 15;82(2):170-6. PMID: 9934984

Diagnosis

Cao DH, Mu K, Liu DN, Sun JL, Bai XZ, Zhang N, Qiu GB, Ma XW
Genet Mol Res 2015 May 11;14(2):4757-66. doi: 10.4238/2015.May.11.8. PMID: 25966250
Ceylan A, Peker E, Dogan M, Tuncer O, Kirimi E
Genet Couns 2011;22(1):69-74. PMID: 21614991
Ozdemir OM, Kiliç I, Ozsari T, Kiliç BA, Faivre L, Aral B, Gürses D, Semerci CN
Turk J Pediatr 2009 Nov-Dec;51(6):631-6. PMID: 20196403
Santos de Oliveira R, Lajeunie E, Arnaud E, Renier D
Childs Nerv Syst 2006 Jan;22(1):90-4. Epub 2005 Mar 23 doi: 10.1007/s00381-004-1089-x. PMID: 15789214
Gripp KW, Stolle CA, Celle L, McDonald-McGinn DM, Whitaker LA, Zackai EH
Am J Med Genet 1999 Jan 15;82(2):170-6. PMID: 9934984

Therapy

Artlich A, Möller J, Tschakaloff A, Schwinger E, Kruse K, Gortner L
Eur J Pediatr 1994 Jul;153(7):488-91. PMID: 7957364

Prognosis

Cao DH, Mu K, Liu DN, Sun JL, Bai XZ, Zhang N, Qiu GB, Ma XW
Genet Mol Res 2015 May 11;14(2):4757-66. doi: 10.4238/2015.May.11.8. PMID: 25966250
Ceylan A, Peker E, Dogan M, Tuncer O, Kirimi E
Genet Couns 2011;22(1):69-74. PMID: 21614991
Ozdemir OM, Kiliç I, Ozsari T, Kiliç BA, Faivre L, Aral B, Gürses D, Semerci CN
Turk J Pediatr 2009 Nov-Dec;51(6):631-6. PMID: 20196403
Seto ML, Lee SJ, Sze RW, Cunningham ML
Am J Med Genet 2001 Dec 15;104(4):323-30. PMID: 11754069
Gripp KW, Stolle CA, Celle L, McDonald-McGinn DM, Whitaker LA, Zackai EH
Am J Med Genet 1999 Jan 15;82(2):170-6. PMID: 9934984

Clinical prediction guides

Cao DH, Mu K, Liu DN, Sun JL, Bai XZ, Zhang N, Qiu GB, Ma XW
Genet Mol Res 2015 May 11;14(2):4757-66. doi: 10.4238/2015.May.11.8. PMID: 25966250
Suhasini AN, Brosh RM Jr
Mutat Res 2013 Apr-Jun;752(2):138-52. Epub 2012 Dec 28 doi: 10.1016/j.mrrev.2012.12.004. PMID: 23276657Free PMC Article
Temtamy SA, Aglan MS, Nemat A, Eid M
Genet Couns 2003;14(3):299-312. PMID: 14577674
Gripp KW, Stolle CA, Celle L, McDonald-McGinn DM, Whitaker LA, Zackai EH
Am J Med Genet 1999 Jan 15;82(2):170-6. PMID: 9934984
Van Maldergem L, Verloes A, Lejeune L, Gillerot Y
J Med Genet 1992 Apr;29(4):266-8. PMID: 1583650Free PMC Article

Supplemental Content

Recent activity

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...
Support Center