OMENS -plus syndrome
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《美国医学杂志》
Department of Pediatrics, Maulana Azad Medical College & Lok Nayak Hospital, New Delhi, India
Abstract
The OMENS syndrome involves craniofacial maldevelopment of the orbit, e ar cranial n erve and soft tissue, while OMENS - plus syndrome also includes extracraniofacial anomalies. These may be skeletal, cardiovascular, gastrointestinal, pulmonary, renal and central nervous system malformations. A fourteen-year-old girl presented with hemifacial microsomia, digital abnormalities and pancreatitis. She was diagnosed as O1M2E0N2S1 - plus syndrome. Investigations revealed a type Ic choledochal cyst. The latter has not been reported as a gastrointestinal association earlier in literature to the best of the authors' knowledge.
Keywords: OMENS plus syndrome; Choledochal cyst
The OMENS syndrome involves craniofacial maldevelopment of the orbit, mandible, ear, cranial nerve and s oft tissue. Grading is according to the degree of dysmorphology for each involved structure.[1] The term OMENS - plus syndrome is used when there are associated extracraniofacial anomalies.[2] A patient with OMENS- plus syndrome with a type Ic choledochal cyst is presented here. To the best of the authors' knowledge, this has not been reported as a gastrointestinal association earlier.
Case Report
A fourteen-year-old girl presented with dysmorphic facies and digital abnormalities. She had a past history of acute pancreatitis. Development had been normal. The antenatal period of her mother had been uneventful.
On examination Figure1, the left side of her face had a hypoplastic orbit, zygomatic region, maxilla and mandible. The nose was asymmetrical, philtrum oblique and the mouth had a cleft like extension of the left angle. There were microdentia and partial anodentia in the left upper jaw and lower jaw respectively. The right-sided dentition was normal. Both ears were normal. Digital anomalies included clinodactly and brachydactyly of the little fingers, syndactyly and brachydactyly of the 2nd and 3rd digits of the left foot and clinodactly of bilateral fifth toes. A left sided lower motor neuron facial nerve paresis was present. Rest of the systemic examination was normal.
Non-pneumatization of the left frontal sinus and the aforementioned dysmorphology of the maxilla and mandible were seen on plain radiography and a type Ic choledochal cyst was found on magnetic vesonance pancreato-cholangiography (MRCP). Investigations to exclude other associated anomalies were non-contributory. The patient was diagnosed as having O1M2E0N2S1 - plus syndrome. Appropriate referrals to the pediatric surgery, maxillo-facial surgery and orthodontic departments were made for management of the choledochal cyst and facial and dental reconstruction respectively. She underwent radical excision of the choledochal cyst with hepatoduodenal anastomosis and is awaiting corrective surgery.
The incidence of hemifacial microsomia (HFM) is 1 in 5,6000.[3] Most cases are sporadic with unilateral involvement. The structures involved are derived from the first and second branchial arches (i.e. mandible, zygomatic complex, maxilla, maxillary and dentoalveolar complexes). The overlying muscles, subcutaneous tissue and skin are hypoplastic. Involvement of the auricle and orbit is common. Lateral facial clefts (macrostomia) may be seen. Facial palsy may occur due to absence of the intracranial portion of the facial nerve, an aberrant pathway, or agenesis of the facial muscles. In order of frequency, the extracraniofacial associations include skeletal (40 -60 %), cardiovascular (14 - 47 %), gastrointestinal (10 %), pulmonary (10 %), renal (10 %) and central nervous system (5 -15 %) malformations.
The most commonly accepted theory about the etiopathogenesis is a vascular insult resulting in hematoma formation in the developing branchial arches.[4] Since cranial and mesodermally derived organ anomalies occur together, it has been suggested that a disruption of mesodermal cell migration anywhere along the embryonal axis in the primitive streak will lead to the associated extracraniofacial malformations.[5]
The frontonasal process and the first and second pharyngeal arch form the face. Maldevelopment usually occurs during the 5th to 6th week of gestation. The limbs develop from the mesenchyme of the limb buds and are most susceptible during 4th to 7th week. Development of the hepatobiliary system starts in the fourth week and is completed by the 7th - 8th week of gestation. Hence in the present patient some disruption probably occurred in the 5th - 6th week in utero .
The management of HFM is a multidisciplinary approach which needs to be individually customized. This includes corrective craniofacial surgery, orthodontic treatment, ear reconstruction and insertion of microvascular free flaps to improve the facial contour.
References
1. Vento AR, La Brie RA, Mulliken JB. The O.M.E.N.S. classification of hemifacial microsomia. Cleft Palate-Craniofac J 1991; 28: 68 -77.
2. Horgan JE, Padwa BL, La Brie RA, Mulliken JB. OMENS-Plus: Analysis of craniofacial and extracraniofacial anomalies in hemifacial microsomia. Cleft Palate-Craniofac J 1995; 32: 405- 412.
3. Branchial arch and oro-acral disorders. In Gorlin JJ, Cohen MM Jr, Levin LS, eds. Syndromes of the Head and Neck. 3rd edn. London; Oxford Univ Press; 1990; 641-649.
4. McKenzie J, Craig J. Mandibulofacial dysostosis. Arch Dis Child 1995; 30: 391-396.
5. Stewart FJ, Nevin NC, Brown S. Axial mesodermal dysplasia spectrum. Am J Med Genet 1993; 45: 426-429.(Kapoor Seema, Mukherjee S)
Abstract
The OMENS syndrome involves craniofacial maldevelopment of the orbit, e ar cranial n erve and soft tissue, while OMENS - plus syndrome also includes extracraniofacial anomalies. These may be skeletal, cardiovascular, gastrointestinal, pulmonary, renal and central nervous system malformations. A fourteen-year-old girl presented with hemifacial microsomia, digital abnormalities and pancreatitis. She was diagnosed as O1M2E0N2S1 - plus syndrome. Investigations revealed a type Ic choledochal cyst. The latter has not been reported as a gastrointestinal association earlier in literature to the best of the authors' knowledge.
Keywords: OMENS plus syndrome; Choledochal cyst
The OMENS syndrome involves craniofacial maldevelopment of the orbit, mandible, ear, cranial nerve and s oft tissue. Grading is according to the degree of dysmorphology for each involved structure.[1] The term OMENS - plus syndrome is used when there are associated extracraniofacial anomalies.[2] A patient with OMENS- plus syndrome with a type Ic choledochal cyst is presented here. To the best of the authors' knowledge, this has not been reported as a gastrointestinal association earlier.
Case Report
A fourteen-year-old girl presented with dysmorphic facies and digital abnormalities. She had a past history of acute pancreatitis. Development had been normal. The antenatal period of her mother had been uneventful.
On examination Figure1, the left side of her face had a hypoplastic orbit, zygomatic region, maxilla and mandible. The nose was asymmetrical, philtrum oblique and the mouth had a cleft like extension of the left angle. There were microdentia and partial anodentia in the left upper jaw and lower jaw respectively. The right-sided dentition was normal. Both ears were normal. Digital anomalies included clinodactly and brachydactyly of the little fingers, syndactyly and brachydactyly of the 2nd and 3rd digits of the left foot and clinodactly of bilateral fifth toes. A left sided lower motor neuron facial nerve paresis was present. Rest of the systemic examination was normal.
Non-pneumatization of the left frontal sinus and the aforementioned dysmorphology of the maxilla and mandible were seen on plain radiography and a type Ic choledochal cyst was found on magnetic vesonance pancreato-cholangiography (MRCP). Investigations to exclude other associated anomalies were non-contributory. The patient was diagnosed as having O1M2E0N2S1 - plus syndrome. Appropriate referrals to the pediatric surgery, maxillo-facial surgery and orthodontic departments were made for management of the choledochal cyst and facial and dental reconstruction respectively. She underwent radical excision of the choledochal cyst with hepatoduodenal anastomosis and is awaiting corrective surgery.
The incidence of hemifacial microsomia (HFM) is 1 in 5,6000.[3] Most cases are sporadic with unilateral involvement. The structures involved are derived from the first and second branchial arches (i.e. mandible, zygomatic complex, maxilla, maxillary and dentoalveolar complexes). The overlying muscles, subcutaneous tissue and skin are hypoplastic. Involvement of the auricle and orbit is common. Lateral facial clefts (macrostomia) may be seen. Facial palsy may occur due to absence of the intracranial portion of the facial nerve, an aberrant pathway, or agenesis of the facial muscles. In order of frequency, the extracraniofacial associations include skeletal (40 -60 %), cardiovascular (14 - 47 %), gastrointestinal (10 %), pulmonary (10 %), renal (10 %) and central nervous system (5 -15 %) malformations.
The most commonly accepted theory about the etiopathogenesis is a vascular insult resulting in hematoma formation in the developing branchial arches.[4] Since cranial and mesodermally derived organ anomalies occur together, it has been suggested that a disruption of mesodermal cell migration anywhere along the embryonal axis in the primitive streak will lead to the associated extracraniofacial malformations.[5]
The frontonasal process and the first and second pharyngeal arch form the face. Maldevelopment usually occurs during the 5th to 6th week of gestation. The limbs develop from the mesenchyme of the limb buds and are most susceptible during 4th to 7th week. Development of the hepatobiliary system starts in the fourth week and is completed by the 7th - 8th week of gestation. Hence in the present patient some disruption probably occurred in the 5th - 6th week in utero .
The management of HFM is a multidisciplinary approach which needs to be individually customized. This includes corrective craniofacial surgery, orthodontic treatment, ear reconstruction and insertion of microvascular free flaps to improve the facial contour.
References
1. Vento AR, La Brie RA, Mulliken JB. The O.M.E.N.S. classification of hemifacial microsomia. Cleft Palate-Craniofac J 1991; 28: 68 -77.
2. Horgan JE, Padwa BL, La Brie RA, Mulliken JB. OMENS-Plus: Analysis of craniofacial and extracraniofacial anomalies in hemifacial microsomia. Cleft Palate-Craniofac J 1995; 32: 405- 412.
3. Branchial arch and oro-acral disorders. In Gorlin JJ, Cohen MM Jr, Levin LS, eds. Syndromes of the Head and Neck. 3rd edn. London; Oxford Univ Press; 1990; 641-649.
4. McKenzie J, Craig J. Mandibulofacial dysostosis. Arch Dis Child 1995; 30: 391-396.
5. Stewart FJ, Nevin NC, Brown S. Axial mesodermal dysplasia spectrum. Am J Med Genet 1993; 45: 426-429.(Kapoor Seema, Mukherjee S)