Presentation
This case report presents an 8-year-old child born to an epileptic mother with a history of AED therapy, with features suggestive of FHS. [ncbi.nlm.nih.gov]
This case report is presented to illustrate a less common orthopodic manifestation of fetal hydantoin syndrome, namely hip dysplasia. CASE REPORT A 23-year-old adopted man presented with a 15-year history of increasing right hip pain. [healio.com]
Present On Admission POA Help "Present On Admission" is defined as present at the time the order for inpatient admission occurs — conditions that develop during an outpatient encounter, including emergency department, observation, or outpatient surgery [icd10data.com]
Organ damage, especially involving the circulatory and digestive systems, may be present in more severe cases of fetal hydantoin syndrome. [wisegeek.com]
Entire Body System
- Atrial Septal Defect
defect, atrial septal defect, tetralogy of Fallot, coarctation of aorta Fetal hydantoin syndrome ventricular septal defect, tetralogy of Fallot, pulmonary stenosis, patent ductus arteriosus, atrial septal defect, coarctation of aorta Fetal rubella syndrome [pedcard.rush.edu]
Because of cyanosis at birth, an echocardiogram was performed and demonstrated d-TGA, atrial septal defect, patent ductus arteriosus, and an intact ventricular septum. [nature.com]
aberrant great vessels, atrial septal defect, conotruncal heart defects, ventricular septal defect Musculoskeletal: flexion contractures, radioulnar synostosis, scoliosis, vertebral segmentation defects Ophthalmologic: optic nerve hypoplasia, ptosis [aafp.org]
Associated with CNS, cardiovascular-atrial septal defects and hypoplastic left heart, NTD, and mild limb bud abnormalities in early gestation. Possible changes in thyroid gland structure during late gestation. [carolguze.com]
- Pain
Radiographs were never obtained as a child, and the patient's pain was attributed to "growing pains." The patient's left hip discomfort increased in severity to a point where he was unable to work as a custodian for an 8-hour shift. [healio.com]
Other problems included painful hips and limbs, heart murmur, noise intolerance, learning difficulties, developmental delays, problems interacting with peers and extreme outbursts. [odt.co.nz]
An 8-year-old girl reported with a complain of decayed teeth and pain on chewing food in the lower right back mouth region. The child weighed 18 kg and was 48" in height. She had seven elder siblings and was eighth in order of birth. [jisppd.com]
[…] ectodermal dysplasia R-6 有汗性外胚葉異形成症:hydrotic ectodermal dysplasia R-7 先天性爪肥厚症:pachyonychia congenita R-8 弛緩性皮膚症候群:cutis laxa syndrome R-9 Donohue症候群:Donohue syndrome R-10 ミシュランタイヤ児症候群:Michelin-tire baby syndrome R-11 先天性無痛無汗症:congenital insensitivity to pain [nankodo.co.jp]
- Developmental Disorder
The fetal hydantoin syndrome is an entity that consists of a broad range of morphologic and developmental disorders in children born of epileptic mothers exposed to hydantoin during pregnancy. [ncbi.nlm.nih.gov]
disorder in infant born of epileptic mothers exposed to hydantoin during pregnancy. [kjp.or.kr]
Along with phenytoin, most of the time adjunct therapy is also provide to the epileptic mother for better control and that also may influence developmental disorder of the fetus or embryo. [medicalfoster.com]
- Recurrent Infection
infections; chronic diarreha Temporal encephalitis; lesions Hydrops fetalis; facial abnormalities; sabershins; CN 8 dysfunction [quizlet.com]
Gastrointestinal
- Failure to Thrive
Later there may be continued failure to thrive and developmental and behavioral disorders. Figure 3.2. This infant, age 6 weeks, was born to a mother with severe, chronic alcoholism. There was failure to thrive and hypotonia. [rrnursingschool.biz]
Failure to thrive, learning disability, and reduction of intellectual ability in infants with FHS are the area of greatest concern. [jisppd.com]
Developmental Problems:Infancy-failure to thrive; growth deficiency; tremulous; irritable; unable to modulate environmental input. Childhood-short attention span; developmental delay; speech delay; motor incoordination. [carolguze.com]
Cardiovascular
- Heart Murmur
Other problems included painful hips and limbs, heart murmur, noise intolerance, learning difficulties, developmental delays, problems interacting with peers and extreme outbursts. [odt.co.nz]
Musculoskeletal
- Hip Pain
He began having vague bilateral hip discomfort at approximately 8 years of age. Radiographs were never obtained as a child, and the patient's pain was attributed to "growing pains." [healio.com]
Skin
- Hirsutism
Varied malformations due to hydantoin intake during pregnancy include digit and nail hypoplasia, growth retardation, typical facial appearance, rib anomalies, abnormal palmar creases, hirsutism, and low hairlines. [ncbi.nlm.nih.gov]
He was noted to have a depressed nasal bridge, coarse scalp hair, hirsutism, nail hypoplasia, and hypoplasia of the fifth digits bilaterally. [nature.com]
Digital hypoplasia, irregular ossification of the distal phalanges with nail dystrophy, coarse profuse scalp hair, hirsutism, short neck, abdominal hernias, cardiac abnormalities, and pilonidal sinus also have been associated with maternal ingestion of [healio.com]
Note the marked hirsutism, low hairline, low nasal bridge with a short upturned nose ("pug" nose), and long philtrum. Figure 3.10. Hypertrichosis in another infant with the fetal hydantoin syndrome. [rrnursingschool.biz]
[…] shallow supraorbital ridge with nasal bridge near level of forehead Fetal hydantoin syndrome Prenatal exposure to phenytoin (Dilantin) Depressed nasal bridge, growth deficits, occasional intellectual disability, wide-spaced eyes Genitourinary defects, hirsutism [aafp.org]
Face, Head & Neck
- Hypertelorism
Clinical presentation CNS anomalies microcephaly increased risk of intracranial bleeding intra-uterine growth restriction congenital cardiac anomalies facial anomalies cleft lip and/or palate hypertelorism congenital genitourinary anomalies hand - phalangeal [radiopaedia.org]
We experienced a case of fetal hydantoin syndrome in a male neonate who had cleft palate, cleft lip, hypertelorism, TOF, finger hypolasia with prenatal history of exposure to diphenylhydantoin. [kjp.or.kr]
[…] in the newborn. fetal hydantoin syndrome A congenital complex caused by in utero exposure to anticonvulsants, affecting the infants of pregnant ♀ being treated with these agents Clinical Growth retardation, microcephaly, midfacial hypo- or dysplasia, hypertelorism [medical-dictionary.thefreedictionary.com]
Her seizures were under controlthroughout the pregnancy.The 3.6 kg male baby was noted to have webbed short neck with slanted palpebral fissures, a depressednasal bridge, coarse profuse scalp hair, short nose with bowed upper lip and ocular hypertelorism [de.slideshare.net]
These include major congenital malformations such as cardiac and neural tube defects, oro-facial clefts, and hypospadias, minor malformations such as craniofacial dysmorphisms (hypertelorism, flat nasal ridge, low The content you are trying to view is [medlink.com]
- Short Neck
The characteristics associated with fetal hydantoin syndrome include distinct facial features, such as low-set ears, widely-spaced eyes, short nose, short neck, and a fold over the inside corner of the eye (called an epicanthal fold). [thinkgenetic.com]
Her seizures were under controlthroughout the pregnancy.The 3.6 kg male baby was noted to have webbed short neck with slanted palpebral fissures, a depressednasal bridge, coarse profuse scalp hair, short nose with bowed upper lip and ocular hypertelorism [de.slideshare.net]
neck, hypertelorism, microcephaly, cleft lip/palate, low set ears, epicanthal folds, ptosis, coloboma, coarse scalp hair. [en.wikibooks.org]
In this infant, note the growth retardation, profuse scalp hair, and short neck. Other findings included hypopla-sia of the distal phalanges with small nails and a digital thumb. Figure 3.8. [rrnursingschool.biz]
Digital hypoplasia, irregular ossification of the distal phalanges with nail dystrophy, coarse profuse scalp hair, hirsutism, short neck, abdominal hernias, cardiac abnormalities, and pilonidal sinus also have been associated with maternal ingestion of [healio.com]
Neurologic
- Seizure
Causes Maternal use of anti-seizure medications such as phenytoin, which is often used to treat epileptic seizures, can result in multiple effects on the developing embryo and fetus, including fetal hydantoin syndrome. [rarediseases.org]
- Convulsions
More research was needed to see if other anti-convulsants put a foetus at risk, she said. Doctors were not providing expectant mothers with all the information available, she said. [odt.co.nz]
But due to lack of evidence that other anti convulsants are any safer inpregnancy, it is important that the women of reproductive age group on hydantoin or any other anticonvulsants be properly counseled about the risks of continuing the drug during pregnancy [de.slideshare.net]
Gets into breast milk and can cause convulsions. [carolguze.com]
Workup
Differential Diagnosis The differential diagnosis for FASD includes a variety of chromosomal abnormalities, exposure to other teratogens, and behavioral and psychiatric diagnoses ( Table 4 ). 2, 22 – 28 If the diagnosis is uncertain, the workup should [aafp.org]
Treatment
Treatment may require the coordinated efforts of a team of specialists. [en.wikipedia.org]
To chalk out the treatment plan pediatricians, neurologists, plastic surgeons, oral surgeons, psychologists, and other healthcare professionals need to work together for systematic and comprehensive treatment. [medicalfoster.com]
[…] thorough revision of the critically acclaimed bestseller offers original insights into the medical management of sixty common genetic syndromes seen in children and adults, and incorporates new research findings and the latest advances in diagnosis and treatment [books.google.de]
Prognosis
Parents should talk to their children’s physician and medical team about their specific case, associated symptoms and overall prognosis. Affected infants may be small at birth due to growth deficiency during development (prenatal growth deficiency). [rarediseases.org]
Etiology
Certain conditions have both an underlying etiology and multiple body system manifestations due to the underlying etiology. [icd10coded.com]
[…] written for professionals and families Extensive updates, particularly in sections on diagnostic criteria and diagnostic testing, pathogenesis, and management A tried-and-tested, user-friendly format, with each chapter including information on incidence, etiology [books.google.de]
Jump to navigation Jump to search Fetal Hydantoin Syndrome Etiology [ edit ] Prenatal hydantoin (dilantin, phenytoin) exposure History/Epidemiology [ edit ] Phenytoin= anticonvulsant first introduced in1938. [en.wikibooks.org]
Epidemiology
Manson and Frederic clarified teratogenic effects of hydantoin in their epidemiological studies in 1973. [ncbi.nlm.nih.gov]
The discussion covers the phenotype spectrum, epidemiology, mode of inheritance, pathogenesis, and clinical profile of each condition, all of which is accompanied by a wealth of illustrations. [books.google.de]
Jump to navigation Jump to search Fetal Hydantoin Syndrome Etiology [ edit ] Prenatal hydantoin (dilantin, phenytoin) exposure History/Epidemiology [ edit ] Phenytoin= anticonvulsant first introduced in1938. [en.wikibooks.org]
This was a biased study and more recent epidemiological studies suggest that the risk of CHD is actually much lower tan originally reported. [fetalultrasound.com]
The epidemiology of epilepsy in Rochester, Minnesota, 1935 through 1967. Epilepsia 1975;16:1-66. 2. World Health Organization. Neurological disorders. Public Health Challenges. Geneva: World Health Organization; 2006. 3. Sridharan R, Murthy BN. [jisppd.com]
Pathophysiology
Common Congenital Anomalies in this textbook describes the different pathophysiologic mechanisms that lead to abnormal fetal development. [hawaii.edu]
Prevention
Early detection and appropriate treatment plan can potentially prevent wide abnormality. Surgical intervention can correct cleft lip and/or cleft palate. [medicalfoster.com]
Supplement of GSH, modification of CuZn-SOD enzyme activity and reduction of the absorption of copper may prevent the incidence of fetal hydantoin syndrome during pregnancy. [ncbi.nlm.nih.gov]
Fetal hydantoin syndrome: A case report 1 Department of Pedodontics and Preventive Dentistry, Manav Rachna Dental College, Faridabad, Haryana, India 2 Department of Oral and Maxillofacial Surgery, Manav Rachna Dental College, Faridabad, Haryana, India [jisppd.com]
Also, it is recommended that women taking phenytoin take folic acid supplements, both before conception and during pregnancy as a preventive measure against malformations. [rarediseases.org]