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Diprosopus

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Latn|di-}}, "two" and πρόσωπον, prósopon [neuter], "face", "person"; with Latin ending), also known as craniofacial duplication (cranio- from Greek κρανίον, "skull", the other parts Latin), is an extremely rare congenital disorder whereby parts (accessories) or all of the face are duplicated on the head.[1][2][3][4][5][6]

Development

Although classically considered conjoined twinning (which it resembles), this anomaly is not normally due to the fusion or incomplete separation of two embryos. It is the result of abnormal activity by the protein SHH (sonic hedgehog).[7][8][9] (The name of this protein was inspired by the Sonic the Hedgehog video game character and is part of an idiosyncratic naming tradition in molecular biology research.)[10][11]

SHH and its corresponding gene have been found to play an important role in signaling craniofacial patterning during embryonic development. Among other things, SHH governs the width of facial features. In excess it leads to widening of facial features and to duplication of facial structures.[7] The greater the widening, the more structures are duplicated, often in a mirror image form. This has been demonstrated in the laboratory by introducing pellets of the SHH protein into chicken embryos, resulting in chickens with duplicate beaks. Inadequate amounts of that protein lead to opposite conditions such as cyclopia where facial features are insufficiently developed.[12]

Healthy brain development is also dependent on the signaling function of SHH.[13] During embryonic development, SHH directs embryonic cells to organize in specific areas that later become specialized neural tissues, thus controlling the size and shape of brain structures.

Occurrences

Diprosopus often occurs in combination with other congenital disorders, particularly anencephaly, neural tube defect and cardiac malformations.[14] When present, the brain may show abnormalities ranging from partial to complete duplication of brain structures, and/or underdevelopment of brain tissues.[15][16]

Humans

Most human infants with diprosopus are stillborn. Known instances of humans with diprosopus surviving for longer than minutes to hours past birth are very rare; only a few are recorded. In 2002 and 2003, two living male infants with partial diprosopus were described in the medical literature in separate case reports.[17][18] One infant was born with duplication of the nose and the cerebral frontal lobes, two widely spaced eyes, a small, underdeveloped central eye socket, and a large, asymmetric mouth. The other infant was born with duplication of the upper and lower jaw, two tongues arising from the same base, cleft palate, a slightly divided tip of the nose, and two widely spaced eyes, as well as absence of the corpus callosum, duplication of the pituitary gland and stalk, and abnormalities in the midbrain. Because they were born with a milder, partial form of diprosopus, both infants were considered candidates for surgical correction of their abnormal facial features.

Lali Singh

Lali Singh[2] (10 March – 10 May 2008) was born to Sushma and Vinod Singh in Saini, Sunpura Sohanpur village, near Delhi; the birth was delayed by dystocia caused by her large head, and her birth in a hospital was facilitated by her mother's receiving an episiotomy. She was one of the very few infants with diprosopus to survive well past birth. She might have been the only known living individual with complete facial duplication. Her facial features included two pairs of eyes, two noses, and two mouths (but only one pair of ears). She was seen as the reincarnation of the goddess Durga, who is sometimes depicted with many limbs and eyes.

Sushma and Vinod Singh declined an offer from local doctors to evaluate their daughter through CT or MRI scanning. Without diagnostic imaging, it was not possible to know the full extent to which the child's condition might have affected her brain and other vital structures in her head and neck. Thus, any estimation of her ability to thrive or even survive could be only speculative, though Lali's family described her as functioning normally. It is also unknown whether neurosurgeons or craniofacial surgeons, if consulted, would have had feasible solutions to offer with respect to corrective surgery. A local doctor told reporters that the baby should be considered a healthy child who currently was living a normal life, a previously unknown occurrence among sufferers of the disorder.[19]

Lali's two middle eyes suffered from corneal opacity due to abnormal anatomy of the facial muscles, which prevented her from properly closing those eyes. (Initially, this was wrongly blamed on camera flashes.)

A cleft palate caused difficulty in her feeding under village conditions. A poor diet of bottle-fed sugar solution and diluted milk, allowed to drip down her throat, as she could not suck properly due to her cleft palate, weakened her condition, and vomiting and infection started. Admission to hospital was delayed by discussion (including taking her back home from hospital) among her extended family and her village's headman. Finally, her parents, alarmed at her illness and dehydration, defied her other relatives and took her back to hospital, where under proper medical treatment including antibiotic and a saline drip she started to improve, stopped vomiting, started drinking milk and defecating normally; but 6 hours later, at two months old to the day, she died of a heart attack.[20] She was buried in her village, as is usual in Hinduism with children who die very young. Later a temple was built at the village in her memory.

Faith and Hope Howie

Faith Daisy and Hope Alice Howie[21] (May 8, 2014 – May 27, 2014) were born in Sydney, Australia, to parents Simon Howie and Renee Young. Faith and Hope shared one body and skull, but had complete duplication of the facial features, as well as duplication of the brain; both brains joined to one brain stem. Young and Howie had learned at 19 weeks gestation of their children's condition, but opted not to terminate the pregnancy. The children were born 6 weeks prematurely and appeared to be doing well, able to breathe unaided several days after their birth, and they were observed to sleep and cry at different times.[22] They died 19 days following their birth due to unknown causes, although some sources indicated that the girls died following an operation for unknown reasons.[23]

Other animals

Few two-faced animals have survived due to associated internal organ abnormalities and brain abnormalities. One of the most famous was Ditto, a pig.[24] Ditto was raised to adulthood, but died of pneumonia caused by food inhalation when breathing through one muzzle while eating with the other.

Cats with the condition are known as 'Janus cats', after the Roman god.[25] In July 2006, a 6-year-old male Janus cat called "Frank and Louie" from Millbury, Massachusetts, USA, received publicity. In their case, only one esophagus (and possibly only one trachea) were functional; this aided survival. In September 2011, when Frank and Louie were 12 years old, it was announced that they would appear in the 2012 Guinness Book of World Records as the longest-surviving Janus cat on record.[26] In 2014, Frank and Louie died at the age of 15.[27]

See also

References

  1. ^ Definition of diprosopus at MedicineNet. Accessed 8 January 2006.
  2. ^ a b 'Miracle baby' is feted in India at BBC News. Accessed 10 April 2008.
  3. ^ al Muti Zaitoun A, Chang J, Booker M (1999). "Diprosopus (partially duplicated head) associated with anencephaly: a case report". Pathol Res Pract. 195 (1): 45–50. doi:10.1016/s0344-0338(99)80094-6. PMID 10048094.
  4. ^ Borzabadi-Farahani A, Yen SL, Yamashita DD, Sanchez-Lara PA (2012). "Bilateral maxillary duplication: case report and literature review". Oral Surg Oral Med Oral Pathol Oral Radiol. 113 (5): e29–32. doi:10.1016/j.tripleo.2011.06.017. PMID 22676989.
  5. ^ Borzabadi-Farahani A, Gross J, Sanchez-Lara PA, Yen SL (2013). "An unusual accessory mandible and a submucosal cleft palate-a case report and review of the literature". Cleft Palate Craniofac J. 50 (3): 369–75. doi:10.1597/11-032. PMID 22404912.
  6. ^ Borzabadi-Farahani A, Yen SL, Francis C, Lara-Sanchez PA, Hammoudeh J (2013). "A rare case of accessory maxilla and Surg". 41 (6): 527–31. doi:10.1016/j.jcms.2012.11.019. PMID 23333494. {{cite journal}}: Cite journal requires |journal= (help)
  7. ^ a b Hu D, Helms JA (1 November 1999). "The role of sonic hedgehog in normal and abnormal craniofacial morphogenesis". Development. 126 (21): 4873–84. PMID 10518503.
  8. ^ Ruiz i Altaba, Ariel (2006). Hedgehog-Gli Signaling in Human Disease. New York, NY: Springer Science+Business Media, Inc. ISBN 978-0-387-33777-7. Retrieved March 12, 2014.
  9. ^ Brugmann, S.A.; Helms, J.A. (2007). "Chapter 30: Craniofacial formation and congenital defects". In Moody, Sally A. (ed.). Principles of Developmental Genetics. Burlington, MA: Academic Press, an imprint of Elsevier Inc. ISBN 9780123695482. Retrieved March 12, 2014.
  10. ^ Donahue JK (July 2006). "Gene therapy, angiogenesis, Sonic Hedgehog: Sonic the Hedgehog to the rescue?". Gene Ther. 13 (13): 998–9. doi:10.1038/sj.gt.3302748. PMID 17262905.
  11. ^ Cameron, David (2012). "Express Yourself (Space Savers issue). Our chromosomes bear creative, even outlandish, names. Who knew?". Harvard Medical School News. Vol. 85, no. 2. Archived from the original on 2012-10-31. Retrieved 2012-10-22.
  12. ^ Young DL, Schneider RA, Hu D, Helms JA (2000). "Genetic and teratogenic approaches to craniofacial development". Crit. Rev. Oral Biol. Med. 11 (3): 304–17. CiteSeerX 10.1.1.542.1906. doi:10.1177/10454411000110030201. PMID 11021632.
  13. ^ Sonic Hedgehog shapes the brain. ScienceDaily, 13 March 2001.
  14. ^ al Muti Zaitoun A, Chang J, Booker M (1999). "Diprosopus (partially duplicated head) associated with anencephaly: a case report". Pathol. Res. Pract. 195 (1): 45–50, discussion 51–2. doi:10.1016/s0344-0338(99)80094-6. PMID 10048094.
  15. ^ Koseoglu K, Gok C, Dayanir Y, Karaman C (1 March 2003). "CT and MR imaging findings of a rare craniofacial malformation: diprosopus". AJR Am J Roentgenol. 180 (3): 863–4. doi:10.2214/ajr.180.3.1800863. PMID 12591714.
  16. ^ Angtuaco TL, Angtuaco EJ, Quirk JG (1 January 1999). "US case of the day. Complete brain duplication with fusion at the posterior fossa (diprosopus tetraophthalmos)". Radiographics. 19 (1): 260–3. doi:10.1148/radiographics.19.1.g99ja15260. PMID 9925407.
  17. ^ Hähnel S, Schramm P, Hassfeld S, Steiner HH, Seitz A (January 2003). "Craniofacial duplication (diprosopus): CT, MR imaging, and MR angiography findings case report". Radiology. 226 (1): 210–3. doi:10.1148/radiol.2261011754. PMID 12511692.
  18. ^ Wu J, Staffenberg DA, Mulliken JB, Shanske AL (December 2002). "Diprosopus: a unique case and review of the literature" (PDF). Teratology. 66 (6): 282–7. doi:10.1002/tera.10102. PMID 12486761.
  19. ^ Two-Faced Baby Triggers Shock and Awe ABC report. Accessed 21 April 2008.
  20. ^ Channel 4 UK television program Body Shock, 10 pm to 11.10 pm Tuesday 16 September 2008
  21. ^ http://www.myjoyonline.com/news/2014/may-12th/australian-woman-gives-birth-to-conjoined-twin-girls-who-share-a-body-but-have-two-brains.php?print=1
  22. ^ "Conjoined twins Hope and Faith have distinct personalities, say parents". 2014-05-19.
  23. ^ "Twins who shared body and head die almost three weeks after surgery".
  24. ^ Armand Marie Leroi (2005). Mutants: on the form, varieties and errors of the human body. New York, N.Y: Harper Perennial. ISBN 978-0-00-653164-7.
  25. ^ Wilson, Cherry (30 September 2011). "Two-faced cat is a record breaker". The Guardian. London.
  26. ^ Ngowi, Roderique (Sep 29, 2011). "Meet Frank and Louie, the longest surviving two-faced cat". thestar.com. Toronto Star. Retrieved 16 October 2011.
  27. ^ "Frank and Louie, the world's oldest two-faced cat, dies at 15". Cox Media Group. December 5, 2014. Archived from the original on December 9, 2014. Retrieved December 5, 2014.
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