Oculocerebrocutaneous and encephalocraniocutaneous lipomatosis syndromes: blind men and an elephant or separate syndromes?

American Journal of Medical Genetics. Part a
Alasdair G W Hunter

Abstract

The discovery of relevant causative genes has subdued the lumping versus splitting debate with respect to a growing number of syndromes. However, it remains paramount to define unknown genesis syndromes as precisely and appropriately as possible in order to provide accurate prognosis and to facilitate future research. The presentation of a 14-month-old girl, of normal intelligence, who had a colobomatous right eye with cyst, minor intracranial MRI variants, and an area of sparse scalp hair containing a 1 by 1.5 cm, soft, domed, and indented skin lesion suggested a diagnosis of mild oculocerebrocutaneous syndrome (OCCS). An initial exploration of the literature exposed the extreme variability in cases that have been reported as OCCS, and emphasized its possible relationship to encephalocraniocutaneous lipomatosis (ECCL), thus challenging the initial diagnosis. Cases reported, or discussed by others, as possible OCCS (40) and ECCL (44) were reviewed as completely as possible in an effort to determine whether diagnostic criteria could be developed for these syndromes, and to see whether or not evidence favored their continued separation as two syndromes. The approach used was to summarize the data for all cases, to select major an...Continue Reading

References

Nov 1, 1976·American Journal of Ophthalmology·G O WaringM M Rodrigues
Sep 1, 1992·Ophthalmic Paediatrics and Genetics·H E LoggersJ B Bijlsma
Feb 1, 1992·Journal of Cranio-maxillo-facial Surgery : Official Publication of the European Association for Cranio-Maxillo-Facial Surgery·A M BaruchinY Golan
Feb 1, 1992·The British Journal of Ophthalmology·R De Cock, A Merizian
Jul 1, 1991·Archives of Ophthalmology·L R PasqualeG H Chan
Sep 1, 1990·American Journal of Medical Genetics·M C BrodskyC M Glasier
Oct 1, 1990·The American Journal of Dermatopathology·E E SahnJ C Maize
Jul 1, 1990·American Journal of Diseases of Children
Jan 1, 1990·Journal of Medical Genetics·L M Bleeker-WagemakersH W Oorthuys
May 1, 1989·Clinical Radiology·J M DesmondD J Morewood
Jan 1, 1989·European Journal of Pediatrics·P L GiorgiG V Coppa
Feb 1, 1989·American Journal of Diseases of Children·P R CohenM Feingold
Nov 1, 1988·Journal of Medical Genetics·L I al-GazaliR F Mueller
Jan 1, 1987·Child's Nervous System : ChNS : Official Journal of the International Society for Pediatric Neurosurgery·O Al-MeftyF Probst
Nov 1, 1986·Pediatric Neurology·I AlfonsoR L Bejar
Jul 1, 1987·Journal of Child Neurology·M A Fishman
Oct 1, 1986·American Journal of Medical Genetics·H R Wiedemann, G R Burgio
Aug 1, 1985·Journal of Oral and Maxillofacial Surgery : Official Journal of the American Association of Oral and Maxillofacial Surgeons·M G SavageR L Bump
Feb 15, 1985·American Journal of Ophthalmology·R D WilsonJ Rootman
Feb 1, 1970·Archives of Neurology·C Haberland, M Perou
Sep 1, 1968·American Journal of Ophthalmology·M A DollfusJ Forthomme
May 1, 1984·Clinical Genetics·J W FergusonB M Rouse
Nov 1, 1984·Clinical Genetics·R Walbaum
Jan 1, 1981·The British Journal of Dermatology·N P SanchezM C Mihm
Apr 1, 1995·Journal of Medical Genetics·E LegiusJ J Cassiman
Feb 1, 1995·Journal of the American Academy of Dermatology·D Nosti-MartínezR Ruiz-Maldonado
Jul 15, 1994·American Journal of Ophthalmology·S R KodsiJ D Cameron
Oct 1, 1993·American Journal of Medical Genetics·R RizzoM M Cohen
Jun 1, 1993·Pediatric Dermatology·R GrimaltR Caputo
Jan 1, 1995·Documenta Ophthalmologica. Advances in Ophthalmology·M J MacLarenF D Koole
Feb 3, 1998·Journal of the American Academy of Dermatology·S CiattiE F Bernstein
Jul 24, 1998·American Journal of Medical Genetics·S E McCandless, N H Robin
Aug 7, 1998·Dermatology : International Journal for Clinical and Investigative Dermatology·R Happle, W Küster
Feb 13, 1999·Neuroradiology·G G NaafsJ M Hew
Nov 26, 1999·Pediatric Dermatology·T A ScholzL J Meyer
Feb 5, 2000·The Journal of Dermatology·R RomitiT Jansen

❮ Previous
Next ❯

Citations

Sep 3, 2011·Journal of Neurosurgery. Pediatrics·Robert E Ayer, Alexander Zouros
Jun 3, 2014·Indian Journal of Ophthalmology·Shivcharan L Chandravanshi
Apr 2, 2014·Indian Journal of Dermatology, Venereology and Leprology·Shivcharan Lal Chandravanshi, Sujata Lakhtakia
Mar 8, 2014·The Indian Journal of Radiology & Imaging·Shruti ThakurShweta Khanna
Mar 5, 2013·The Journal of Pediatrics·Amira DhouibGiorgio C La Scala
Mar 8, 2011·Actas dermo-sifiliográficas·M Llamas-VelascoA Torrelo
Aug 2, 2015·Child's Nervous System : ChNS : Official Journal of the International Society for Pediatric Neurosurgery·O KocakK B Carman
Mar 5, 2016·American Journal of Human Genetics·James T BennettLaura M McDonell
Jan 30, 2007·European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society·Maria J ValladaresFrancisco Gonzalez
Feb 14, 2009·American Journal of Medical Genetics. Part a·Paolo PronteraEmilio Donti
Sep 25, 2014·American Journal of Medical Genetics. Part a·Deniz AslanOliver Bartsch
May 2, 2016·Pediatric Neurology·Jelena Radić NiševićIzidora Holjar Erlić
Sep 28, 2013·Journal of Plastic Surgery and Hand Surgery·Lorenzo BorgognoniUmberto Maria Reali
Apr 19, 2015·Journal of Oral and Maxillofacial Surgery : Official Journal of the American Association of Oral and Maxillofacial Surgeons·Farzana Mahomed, Ephraim Rikhotso
Jan 5, 2014·The Canadian Journal of Neurological Sciences. Le Journal Canadien Des Sciences Neurologiques·Hali Bauld, P Daniel McNeely
Sep 1, 2016·Journal of Current Ophthalmology·Mohammad Sharifi, Maral Namdari
Jul 15, 2017·The Neuroradiology Journal·Shaista SiddiquiBasmah Abdur Rashid
Sep 20, 2017·Clinical and Experimental Dermatology·J D HoJ Bhawan
Apr 17, 2018·Ophthalmic Plastic and Reconstructive Surgery·Christine L BokmanRobert A Goldberg
Mar 19, 2011·American Journal of Medical Genetics. Part a·Alasdair G W Hunter
Oct 6, 2018·American Journal of Medical Genetics. Part a·Laura M McDonellBrian Hon-Yin Chung
Oct 30, 2007·American Journal of Medical Genetics. Part a·Holly H ArdingerMichael L Begleiter
Nov 16, 2007·American Journal of Medical Genetics. Part a·Ute MoogWilliam B Dobyns
Nov 15, 2007·American Journal of Medical Genetics. Part a·Ute MoogVirginia E Kimonis
Feb 5, 2008·American Journal of Medical Genetics. Part a·Alasdair Hunter
Mar 21, 2019·Molecular Genetics & Genomic Medicine·Oscar F Chacon-CamachoJuan Carlos Zenteno
Jan 29, 2020·Nature Reviews. Genetics·Molly GasperiniJay Shendure
Feb 9, 2020·Journal of Cutaneous Pathology·Jorge RomanRandie H Kim
Jan 11, 2019·Therapeutic Advances in Ophthalmology·Oluwakemi A BadejoMatthew T Shokunbi
Sep 5, 2020·International Medical Case Reports Journal·Majdi Al QawasmehKhalid El-Salem
Aug 22, 2008·Orbit·Ann P Murchison, C Robert Bernardino
Dec 24, 2018·American Journal of Medical Genetics. Part C, Seminars in Medical Genetics·Ute Moog, William B Dobyns
Jan 1, 2014·Qatar Medical Journal·Fajish HabibKhalid Mohamed
Nov 25, 2016·Case Reports in Neurological Medicine·Sinead CulletonHong Kuan Kok
Mar 3, 2021·Child's Nervous System : ChNS : Official Journal of the International Society for Pediatric Neurosurgery·Zehra Filiz Karaman, Şerife Ebru Özüdoğru
May 3, 2021·Orphanet Journal of Rare Diseases·Daphna Landau PratJames A Katowitz
Aug 13, 2021·Case Reports in Pediatrics·Mahbobeh BahmaniSeyed Hamed Jafari
Sep 23, 2021·Pediatric and Developmental Pathology : the Official Journal of the Society for Pediatric Pathology and the Paediatric Pathology Society·Julie CattinSophie Collardeau-Frachon
Sep 30, 2021·Child's Nervous System : ChNS : Official Journal of the International Society for Pediatric Neurosurgery·Flávia SprengerBernardo Corrêa de Almeida Teixeira

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