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Copyright 1980 - 2007 V. Ventruto / A. Di Luccio Genus database 9630 Foetal coumarin syndrome Eponyms: Inheritance: anticoagulant oral embryopathy coumarin syndrome vitamin K-antagonist embryopathy no genetic Semeiological Facio-neuro-skeletal disorder. Nasal hypoplasia, respiratory distress, epiphyseal stippling, hypoplastic extremities, other multiple defects including ocular anomalies. Risk of foetal abnormalities: only in a small Synthesis: proportion of exposed pregnancies. Anticoagulants are undesirable in pregnancy. Group Sub group Signs: AUDITORY DISORDERS deafness deafness sensorineural, including unspecified type deafness, in syndromic association CARDIOVASCULAR DISORDERS cardiac congenital defects cardiopathy, congenital DERMATOLOGICAL DISORDERS nail changes nails and/or toenails, dysplastic, brittle nails, onychodystrophy LABORATORY DATA biochemical markers metabolic defect plasma nonprotein-organic constituents, anomalies vitamins, disorders MUSCULAR DISEASES muscular defects, distrectual diaphragmatic defects, diaphragmatic hernia NEUROLOGICAL DISORDERS brain anomalies microcephaly, microcrania occipital encephalocele, myeloencephalocele, posterior encephalocele hydrocephalus Dandy-Walker malformation, including DandyWalker variant mental retardation mental retardation neurological dysfunctions seizures, convulsions, epilepsy OCULAR DISORDERS corneal defects not including dystrophy corneal clouding microphthalmos (anteposterior globe diameter less than 20 mm, in adult), anophthalmos lens, defects cataract, no isolated defect cataract, unspecified type orbital changes orbit, shallow, including: orbital ridges flat, hypoplastic supraorbital ridges OROCRANIOFACIAL ANOMALIES facies, modified appearance dysmorphic face facial dysmorphism due to cranial changes including microcephaly forehead-orbital region, changes Foetal coumarin syndrome Page 1 of 4 Copyright 1980 - 2007 V. Ventruto / A. Di Luccio Genus database hypertelorism maxilla-cheek changes midface hypoplasia, malar hypoplasia, hypoplastic zygomata mouth, modified appearance mouth, small, microstomia nose, modified appearance choanal atresia nasal bridge, nasal root, depressed, flat, saddle-nose nasal bridge, nasal root, low nose, bifid, grooved tip nose, pointed, anteverted nostrils nose, small, nose tiny, nose short, not including very small nose, very small palatopharyngeal changes palate cleft, palatoschisis, including submucous, not including lip and palate cleft OTHERS inheritance inheritance, no genetic supergroups cardio-cutaneous-facio disorders cardio-cutaneous-oculo disorders cardio-cutaneous-oto-skeletal disorders cardio-facio-neuro-skeletal disorders cardio-facio-oto-skeletal disorders cardio-facio-urological disorders cutaneous-facio-neuro-oculo disorders cutaneous-facio-oto-urological disorders cutaneous-oculo-oto-skeletal disorders facio-neuro-oculo-oto disorders facio-neuro-oculo-skeletal disorders facio-oto-respiratory disorders oto-skeleto-urological disorders skeleto-urological disorders PRENATAL-NEONATAL MODIFIED DATA foetal changes birth weight, low; foetal growth decreased, intrauterine growth retardation, intrauterine growth restriction, IUGR foetal changes, induced by environmental agents not including: infections foetal changes, recognized by ultrasound techniques prenatal diagnosis prenatal diagnosis, echographic RESPIRATORY DISORDERS respiratory distress respiratory distress, including asthma SKELETAL DISORDERS brachydactyly brachydactyly, brachyphalangy, in syndromic association brachytelephalangy epiphyseal changes epiphyseal stippling femur, anomalies femur, short, absent, anomalous humerus, anomalies humerus, short anomalous limb anomalies, limb defects rhizomelic dwarfism Foetal coumarin syndrome Page 2 of 4 Copyright 1980 - 2007 V. Ventruto / A. Di Luccio Genus database ossification, changes bone, focal sclerosis, sclerosis focal of the bones spine, changes scoliosis, kyphoscoliosis stature, growth, modified habitus stature, short, including micromelia, including short limbs UROLOGICAL DISORDERS kidney, malformations kidney, small, underdeveloped, including renal agenesis urinary tract-bladder, malformations urinary tract malformations, unspecified type Super group: cardio-cutaneous-facio disorders cardio-cutaneous-ocular disorders cardio-cutaneous-oto-skeletal disorders cardio-facio-neuro-oculo-oto disorders cardio-facio-neuro-skeletal disorders cardio-facio-oto-skeletal disorders cardio-facio-urological disorders cutaneous-facio-neuro-ocular disorders cutaneous-facio-oto-urological disorders cutaneous-oculo-oto-skeletal disorders dysmorphic face-mental retardation: deafness facio-neuro-oculo-skeletal disorders facio-oculo-skeletal disorders facio-oto-respiratory disorders oto-skeleto-urological disorders skeletal-urological disorders Super aggreg. DEAFNESS deafness, in syndromic association Aggregations: FOETAL CHANGES foetal changes, induced by environmental agents not including infections foetal changes, recognized by ultrasound techniques METABOLIC DISORDERS vitamin disorders OSTEOCHONDRODYSTROPHY, OSTEOCHONDRODYSPLASIAS rhizomelic dwarfism OTHER cataract, not isolated defect craniofacial dysmorphism due to cranial changes, including microcephaly dysmorphic face Differential diagnosis: 380 acrodysostosis 5489 chondrodysplasia punctata, X-linked recessive 5450 chondrodysplasia punctata, ConradiHunermann, autosomal dominant type 5480 chondrodysplasia punctata, rhizomelic, type 1 28647 chondrodysplasia punctata, rhizomelic, type 2-3 5490 chondrodysplasia punctata, X-linked dominant 28105 Ciske-Waggoner-Dowton syndrome 27651 Machin syndrome 15730 Marshall syndrome 15830 maxillonasal syndrome, Binder type 22820 Ritscher-Schinzel syndrome Aggregation(s) [in differential diagnosis]: - chondrodysplasia punctata Foetal coumarin syndrome Page 3 of 4 Genus database Bibliography Foetal coumarin syndrome Copyright 1980 - 2007 V. Ventruto / A. Di Luccio B.D.Encyclopedia 0389 p.731 Baraitser-Winter: Congenital Malformation Syndromes Mosby&Wolfe Ed. 1996, pag.217-218 Wiedemann H.R.-Kunze J.: Clinical Syndromes , Mosby-Wolfe Ed. 1997 pag. 258-259 Smith's Recognizable Patterns of Human Malformation. 6th Edition pag. 656-657 Peter S.Harper: Practical Genetic Counselling. 6th Ed. 2004 pag. 349 Page 4 of 4
