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      Ethmocephaly with Amniotic Band Syndrome

      case-report

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          Abstract

          Ethmocephaly is the rarest form of holoprosencephaly, which occurs due to an incomplete cleavage of the forebrain. Clinically, the disease presents with a proboscis, hypotelorism, microphthalmos and malformed ears. Amniotic band syndrome is another rare congenital malformation with ring-like constriction bands in the limbs, head, face or trunk. We present a case of ethmocephaly with amniotic band syndrome, which is likely the first of its kind, published in the literature.

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          The amniotic band disruption complex: timing of amniotic rupture and variable spectra of consequent defects.

          Marilyn C. Higginbottom, Kenneth L. Jones, Bryan Hall … (1979)
          Seventy-nine patients with the amniotic band disruption complex, including 54 infants with multiple system involvement and 25 with affected limbs alone, were evaluated. No two cases of the disorder were exactly alike. Defects varied from simple digital band constrictions to major craniofacial and visceral defects; fetal death may also occur. Amniotic rupture appeared to cause injury through three basic mechanisms: (1) interruption of normal morphogenesis; (2) crowing of fetal parts; and (3) disruption of previously differentiated structure. Comparison of 35 cases in which the timing of amniotic rupture could be estimated suggests that early amniotic rupture results in multiply affected infants who are frequently aborted or stillborn, whereas later rupture results primarily in limb involvement. Our findings indicate that both the spectrum of the developmental pathology and the nature of fetal outcome are determined by the timing of amniotic rupture. Appreciation of the mechanism which explains the disparate appearances of infants with the amniotic band disruption complex will allow more acurate diagnosis and appropriate counseling with respect to the sporadic nature of the disorder.
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            Holoprosencephaly in infants of diabetic mothers.

            Mason Barr, James Hanson, Kathleen M. Currey … (1983)
            We report seven infants of diabetic mothers, affected with holoprosencephaly malformation sequence. An additional 15 cases assembled from personal communications and the literature indicate that holoprosencephaly, like neural tube, cardiac, and caudal defects, is specifically increased in children of diabetic mothers. Incidence figures from newborn surveys demonstrate a risk for holoprosencephaly in infants of diabetic mothers comparable to the 1% risk for caudal regression malformation sequence. The embryologic timing of cranial, cardiac, and caudal defects emphasizes the need for pregnancy planning and diabetes control.
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              Holoprosencephaly: prenatal sonographic diagnosis.

              Cecilia Nyberg, Philip Bronstein, R Pagon … (1987)
              Fourteen cases of holoprosencephaly (HP), including 10 cases of alobar HP and four cases of semilobar HP, were identified by prenatal sonography. Intracranial and extracranial findings were reviewed to determine the accuracy and spectrum of the sonographic features. All 14 cases were reliably distinguished from other causes of fetal hydrocephalus (n = 58) detected during the same period by demonstrating absence of the midline echo (falx cerebri and interhemispheric fissure), fusion of the thalami, and abnormal ventricular configuration. Four cases of semilobar HP demonstrated incomplete fusion of the thalami and partial separation of the ventricles compared with alobar HP. Eight cases demonstrated a dorsal cyst including five with alobar HP and three with semilobar HP. One case demonstrated an unusual extraaxial fluid collection surrounding the brain, thought to be from rupture of a dorsal cyst. Facial features that were identified included a proboscis (three cases), midline facial cleft (three cases), and hypotelorism (five cases). Extracranial abnormalities that were identified included polydactyly (two cases), renal dysplasia (two cases), omphalocele (one case), and fetal hydrops (one case). We conclude that fetuses with HP can exhibit a spectrum of sonographic findings and that alobar or semilobar HP is reliably distinguished from other causes of fetal hydrocephalus by distinctive intracranial findings.
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                Author and article information

                Journal
                Journal ID (nlm-ta): Middle East Afr J Ophthalmol
                Journal ID (iso-abbrev): Middle East Afr J Ophthalmol
                Journal ID (publisher-id): MEAJO
                Title: Middle East African Journal of Ophthalmology
                Publisher: Medknow Publications & Media Pvt Ltd (India )
                ISSN (Print): 0974-9233
                ISSN (Electronic): 0975-1599
                Publication date (Print): Oct-Dec 2012
                Volume: 19
                Issue: 4
                Pages: 429-431
                Affiliations
                [1]Department of Pediatrics, R. G. Kar Medical College and Hospital, Khudiram Bose Sarani, Kolkata, West Bengal, India
                [1 ]Department of Ophthalmology, R. G. Kar Medical College and Hospital, Khudiram Bose Sarani, Kolkata, West Bengal, India
                Author notes
                Corresponding Author: Dr. Sabyasachi Bandyopadhyay, 11/11, Ghosal Para Road, Dakshin Para, Barasat, Kolkata, West Bengal, India. E-mail: sabyasachi.bandyopadhyay@ 123456yahoo.com
                Article
                Publisher ID: MEAJO-19-429
                DOI: 10.4103/0974-9233.102769
                PMC ID: 3519136
                PubMed ID: 23248551
                SO-VID: c6b680a8-a950-4c71-b465-3ac6e980bde1
                Copyright © Copyright: © Middle East African Journal of Ophthalmology
                License:

                This is an open-access article distributed under the terms of the Creative Commons Attribution-Noncommercial-Share Alike 3.0 Unported, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.

                History
                Categories
                Subject: Case Report

                ScienceOpen disciplines: Ophthalmology & Optometry
                Keywords: proboscis,hypotelorism,amniotic band syndrome ethmocephaly,holoprosencephaly
                Data availability:
                ScienceOpen disciplines: Ophthalmology & Optometry
                Keywords: proboscis, hypotelorism, amniotic band syndrome ethmocephaly, holoprosencephaly

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