Some of the principal syndromes of this disorder include microcephaly or developing an unusually small head, brain malfunctions, developmental delays, growth deficiencies. The fetal hydantoin syndrome refers to a spectrum of features that can develop in a small proportion 10% 5 of women taking the antiepileptic drug phenytoin dilantintm during pregnancy. This information does not replace the advice of a doctor. Fetal hydantoin syndrome nord national organization for. Fetal hydantoin syndrome is a characteristic pattern of mental and physical birth defects that results from maternal use of the antiseizure anticonvulsant drug phenytoin dilantin during pregnancy. Multimodality imaging of associated congenital anomalies and acquired diseases med j malaysia vol 68 no 6 december 20 483 lung. Fetal hydantoin syndrome fhs is a spectrum of defects caused to the developing fetus by exposure to the teratogenic effects of antiepileptic.
A drugrelated embryofetopathy that can occur when an embryofetus is exposed to the anticonvulsant drug. The trip database provides clinical publications about. Dilantin, phenytoin and a few other similar anticonvulsants are also included. Symptoms, risk factors and treatments of fetal hydantoin syndrome medical condition fetal hydantoin syndrome, also called fetal dilantin syndrome is a group of. Infants of epileptic mothers receiving anticonvulsants should be closely examined at birth for the fetal hydantoin syndrome and monitored for hemorrhagic problems. These images are a random sampling from a bing search on the term fetal hydantoin syndrome. Congenital and acquired types are recognized and have been described, mainly in late childhood, adolescence and adult ages. Clifahdd is a congenital disorder characterized by congenital contractures of the. The risk that an infant exposed to hydantoin in utero will have the clinical phenotype of the fullblown fetal hydantoin syndrome is approximately 5 to 10 percent, whereas the risk of an infants. Fetal hydantoin syndrome is a disorder that is caused by exposure of a fetus. Her diagnosis followed the identification of a fibrillin1 mutation fbn1 gene, exon 26. One entity that can be confused with the fetal hydantoin syndrome is the coffinsiris syndrome. Fetal hydantoin syndrome is a disorder that is caused by exposure of a fetus to phenytoin, a drug commonly prescribed for epilepsy.
Hanson and smith2 used me term fetal hydantoin syndrome to. Some reports have shown that phenytoin is a transplacental carcinogen. Fetal hydantoin syndrome medical condition youtube. Fhs fetal hydantoin syndrome 710% with phenytoin generally associated with variety of craniofacial defects as well as hypoplasia of the distal phalanges and small or absent fingernails may be due to decreased levels of epoxide hydrolase, an enzyme which increases the clearance of some potentially toxic metabolites epoxides. Neonatal neurologic features and shortterm outcome jeffrey m. Prenatal prediction of risk of the fetal hydantoin syndrome.
He was referred by his primary care physician due to deformities of his hands and feet. Tumors were reported to occur after in utero exposure to phenytoin in a few cases. Modes of action of teratogens teratogens may act by causing mitotic interference, alterations in rna or protein synthesis, deficiencies in substrates, precursors or energy sources, alterations in membrane transport processes, modifications of the cell surface or matrix that lead to altered cell migration, or by producing osmolar imbalances. In the 70 years since the introduction of the first anticonvulsant, phenobarbital, a large and diverse group of drugs has been developed to control seizures. Hypoplastic left heart has previously been reported in only three other cases of. Fetal hydantoin syndrome and its anaesthetic implications. Fetal hydantoin syndrome, neuroblastoma, and hemorrhagic. Click on any term below to browse the alphabetical index. Fetal hydantoin syndrome, phenytoin, congenital anomalies, epilepsycase reporta term baby 41wks was born to a g p l mother with polyhydraminos with seizure disorder.
There are two types of congenital diaphragmatic hernia, morgagni and bochdalek hernias, the latter being the more common subtype, with an estimated frequency of 1 per 20005000 live births4. Ideal sources for wikipedia s health content are defined in the guideline wikipedia. Sibs exposed to similar amount have been affected to different degrees. Not all infants exposed to phenytoin will be affected with the disorder. Fetal hydantoin syndrome nord national organization for rare. Fetal hydantoin syndrome fhs is a set of disruptions occasionally present in fetuses exposed in utero to phenytoin or other anticonvulsants. Effects due to maternal exposure to hydantoin anticonvulsant. It has been observed that women using antiepileptic drugs during their pregnancy have a greater risk of fetal hydantoin syndrome for a newborn. November 1982 816 the journal of p e d i a t r i c s fetal hydantoin syndrome.
Dykedavidoffmasson syndrome is a rare condition characterized by cerebral hemiatrophy, calvarial thickening, skull and facial asymmetry, contralateral hemiparesis, cognitive impairment and seizures. Fetal hydantoin syndrome radiology reference article. Fetal hydantoin syndrome or fetal dilantin syndrome is a rare disease that is caused when a fetus is exposed to phenytoin, an anticonvulsant drug in the form of dilantin. A read is counted each time someone views a publication summary such as the title, abstract, and list of authors, clicks on a figure, or views or downloads the fulltext. Fetal hydantoin syndrome is a rare disorder that is believed to be caused by exposure of a fetus to the anticonvulsant drug phenytoin. The classic features of fetal hydantoin syndrome include craniofacial anomalies, prenatal and postnatal growth deficiencies, underdeveloped nails of the fingers and toes, and mental retardation.
A teratogenic disorder observed in a newborn or child of a mother who was exposed to phenytoin during pregnancy. Congenital heart disease is seen less frequently with fetal hydantoin syndrome 3. Fetal hydantoin syndrome genetic and rare diseases information. The neuroblastoma, a neural crest tumor, is the fourth of such origin reported after in utero exposure to phenytoin, suggesting that phenytoin is a transplacental carcinogen. A case of prenatal diagnosis of fetal hydantoin syndrome by. Healthwise, incorporated, disclaims any warranty or liability for your use of this information. The range and severity of associated abnormalities will vary greatly from one infant to another. Also discussed is nindsfunded research to increase scientific understanding of cephalic disorders. Keywords patent ductus arteriosus pyloric stenosis single umbilical artery specific birth defect melanotic neuroectodermal tumor.
There is a wide range in the nature and severity of characteristics associated with fetal hydantoin syndrome. Research has shown that anticonvulsants are teratogens and pose a risk for fetal malformations. A case of prenatal diagnosis of fetal hydantoin syndrome. The incidence rate showed almost 10 to 30 percent of pregnant women deliver neonates with fetal hydantoin syndrome as they expose to phenytoin during their pregnancy. Fetal hydantoin syndrome with rheumatic valvular heart. Click on the image or right click to open the source website. Fetal hydantoin syndrome is by far the bestcharacterized malformation complexes induced by anticonvulsant drugs used to treat maternal epilepsy. It is genotypically and phenotypically distinct from the typical marfan syndrome and carries a poorer prognosis. This is the first patient report of maternal ingestion of anticonvulsants associated with the triad of fetal hydantoin syndrome, neuroblastoma, and hemorrhagic disease. A 19yearold young man presents with his father in the adult rheumatology clinic for evaluation of nodes on his knuckles. Clinical presentation cns anomalies microcephaly i. Hypoplastic left heart syndrome in a patient with fetal hydantoin. These anomalies were found in various degrees of severity in triplets born to a mother taking phenobarbital and phenytoin for an epileptic disorder, giving us a unique opportunity to recognize different manifestations of the hydantoin syndrome in infants that. The fetal hydantoin syndrome refers to a spectrum of features that can develop in a small proportion 10% 5 of women taking the antiepileptic drug phenytoin dilantin tm during pregnancy.
Fetal hydantoin syndrome, also called fetal dilantin syndrome is a group of defects caused to the developing fetus by exposure to teratogenic effects of phenytoin. Omim entry % 600399 pectus excavatum, macrocephaly. The father, who was judged to be affected, was 172 cm tall 25th percentile with a head circumference of 58 cm 98th. An anticonvulsant drug, c15h12n2o2, used to treat epilepsy, often in the form of its sodium salt. Fetal hydantoin syndrome symptoms,causes,treatment and. Fetal hydantoin syndrome fhs is a spectrum of defects caused to the developing fetus by exposure to the teratogenic effects of antiepileptic drug aed phenytoin during pregnancy. A case of prenatal diagnosis of fetal hydantoin syndrome by ultrasound.
Fetal hydantoin syndrome is a characteristic pattern of mental and physical birth defects that results from maternal use of the antiseizure anticonvulsant drug. Fetal hydantoin syndrome genetic and rare diseases. Fetal hydantoin syndrome definition of fetal hydantoin. Neonatal marfan syndrome nmfs is a rare condition with a poor prognosis. This syndrome has several similarities to fetal hydantoin syndrome, including hypoplastic fingernails and toenails, especially of the fifth digits. August 1975 thejournalofpediatrics 285 the fetal hydantoin syndrome five unrelated children born to epileptic women treated with hydantoin anticonvulsants were found to have a similar broad multisystem pattern of abnormalities, including craniofacial anomalies, nail and digital hypoplasia, prenatalonset growth deficiency, and mental deficiency. Birth defects associated with phenytoin and phenobarbital taken during pregnancy include craniofacial and limb deformities. Risks of child having full syndrome is about 10% and the risk for having some of the effects of the disorder is an additional 33%. Handbook of genetic counselingfetal hydantoin syndrome. Fetal hydantoin syndrome pictures, causes, symptoms.
Manifestations include dysmorphic craniofacial features, hypoplastic distal phalanges and nails, growth delay and delayed psychomotor development. Though fetal hydantoin syndrome fhs was first reported by langhman and others, wide phenotypic variability of this syndrome has lead many clinicians to question its very existence. Perlman, mb and rick risser, mst the objectives of this study were to determine if in. Of infants born to women who used phenytoin during pregnancy, 1030% are reported to show some of the characteristics associated with this syndrome. Fetal hydantoin syndrome synonyms, fetal hydantoin syndrome pronunciation, fetal hydantoin syndrome translation, english dictionary definition of fetal hydantoin syndrome. Dilantin is the brand name of the drug phenytoin sodium in the united states, commonly used in the treatment of epilepsy. The discussion aims to bring to attention thepotential hazard of the use of hydantoin drug during reproductive age to all medical practitioners. This publication provides an overview of cephalic disorders, including common symptoms, diagnosis, and available therapies. This case report describes the progression of a 14monthold girl diagnosed with nmfs at 5 months of age.
962 1274 80 647 889 1360 933 446 754 1031 1210 84 199 1413 783 510 635 1137 795 909 49 1535 1262 287 923 1232 60 1064 355 216 991 1208