Di Sala syndrome

Kumar, Manoj; Bhasker, Shashi Kumar; Singh, Ragini; Kohli, Neera; Kumar, Rashmi

doi:10.1136/bcr.12.2011.5291

Cited by 14 publications

(11 citation statements)

References 7 publications

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“…In addition, the bony effects associated with warfarin may explain the pectus excavatum and digital clubbing. Pectus excavatum [Kumar et al, ] and hand abnormalities, such as brachydactyly [Sathienkijkanchai and Wasant, ; Keppler‐Noreuil and Wenzel, ; Kumar et al, ] and hypoplasia of all distal phalanges [Sathienkijkanchai and Wasant, ] have been described in fetal Warfarin syndrome (Table ).…”

Section: Discussionmentioning

confidence: 99%

Importance of a multidisciplinary approach and monitoring in fetal warfarin syndrome

Silveira

Rosa

Mattos

et al. 2015

American J of Med Genetics Pt A

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Warfarin is a synthetic oral anticoagulant that crosses the placenta and can lead to a number of congenital abnormalities known as fetal warfarin syndrome. Our aim is to report on the follow-up from birth to age 8 years of a patient with fetal warfarin syndrome. He presented significant respiratory dysfunction, as well as dental and speech and language complications. The patient was the second child of a mother who took warfarin during pregnancy due to a metallic heart valve. The patient had respiratory dysfunction at birth. On physical examination, he had a hypoplastic nose, pectus excavatum, and clubbing of the fingers. Nasal fibrobronchoscopy showed upper airway obstruction due to narrowing of the nasal cavities. He underwent surgical correction with Max Pereira graft, zetaplasty, and osteotomies for the piriform aperture. At dental evaluation, he had caries and delayed eruption of the upper incisors. Speech and language assessment revealed high palate, mouth breathing, little nasal patency, and shortened upper lip. Auditory long latency and cognitive-related potential to auditory stimuli demonstrated functional changes in the cortical auditory pathways. We believe that the frequency of certain findings observed in our patient may be higher in fetal warfarin syndrome than is appreciated, since a significant number result in abortions, stillbirths, or children evaluated in the first year of life without a follow-up. Thus, a multidisciplinary approach and long-term monitoring of these patients may be necessary.

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Section: Discussionmentioning

confidence: 99%

Importance of a multidisciplinary approach and monitoring in fetal warfarin syndrome

Silveira

Rosa

Mattos

et al. 2015

American J of Med Genetics Pt A

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“…Warfarin embryopathy, also known as fetal warfarin syndrome or di Sala syndrome, is primarily characterised by nasal hypoplasia and skeletal abnormalities, including short limbs and digits (brachydactyly), and stippled epiphyses 3 4. A systematic review of data pertaining to pregnancies anticoagulated for maternal prosthetic heart valves reported that, of 41 live births born with malformations following maternal warfarinisation, 29 had classical nasal hypoplasia and epiphysial stippling, while 4 had neurological anomalies (hydrocephalus and learning difficulties), 4 had cleft lip and/or palate and a further 4 had isolated anomalies of one organ system 5.…”

Section: Discussionmentioning

confidence: 99%

Fetal warfarin syndrome

et al. 2012

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A case of a baby born preterm with an antenatal diagnosis of aortic coarctation for which prostin was electively started at birth. The baby was found to be profoundly anaemic with no clear obstetric cause. Features consistent with antenatal intracerebral haemorrhage were noted on cranial ultrasonography in the context of severe coagulopathy, prompting investigations which confirmed fetal-maternal haemorrhage. It transpired that, following aortic and mitral valve replacements, the mother was anticoagulated with warfarin at conception, having misunderstood her cardiologist's advice that: 'you cannot get pregnant whilst on warfarin'. Following conversion to low molecular weight heparin, she suffered a stroke, thus warfarin was restarted, with an international normalised ratio of 3-4.7 during pregnancy. Following transfer to the paediatric intensive care unit, fetal warfarin syndrome was diagnosed. The coagulopathy and anaemia were corrected and aortic coarctation was excluded. The baby returned to the neonatal intensive care unit for ongoing care and was discharged home in good condition around his due date. At the present time, there is no clinically overt neurological deficit.

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“…Common manifestations of FWS include nasal hypoplasia, stippled epiphyses, and skeletal abnormalities (Kumar et al, ). The characteristic epiphysial stippling in FWS is produced by the interference of vitamin K reductase activity by warfarin, resulting in a decrease in the levels of vitamin K dependent mineralization inhibitors osteocalcin and Gla matrix protein in cartilages, which leads to ectopic calcium deposits in epiphyses (Menon et al, ).…”

Section: Introductionmentioning

confidence: 99%

“…Warfarin can also produce hemorrhages in fetal organs and lead to fetal wastage when continued until late gestation (Menger et al, ). Other reported anomalies associated with FWS include choanal atresia, laryngeal abnormalities, upper airway obstruction, short neck, telebrachydactyly, growth retardation, pectus carinatum, diaphragmatic hernia, congenital heart defects including atrial septal defect and patent ductus arteriosus (PDA), optic atrophy, blindness, deafness, microcephaly, hydrocephalus, agenesis of corpus callosum, Dandy Walker malformation, seizure, and mental retardation (Hall, ; Hou, ; Kumar et al, ; Mazibuko et al, ).…”

Section: Introductionmentioning

confidence: 99%