Open Access

Craniocervical junction malformation in a child with Oromandibular-limb hypogenesis-Möbius syndrome

  • Ali Al Kaissi1, 3Email author,
  • Franz Grill2,
  • Hatem Safi3,
  • Maher Ben Ghachem3,
  • Farid Ben Chehida4 and
  • Klaus Klaushofer1
Orphanet Journal of Rare Diseases20072:2

DOI: 10.1186/1750-1172-2-2

Received: 28 June 2006

Accepted: 08 January 2007

Published: 08 January 2007

Abstract

We report a male child with Oromandibular-limb hypogenesis (OMLH), the main features being bilateral sixth and seventh nerve palsies, limb anomalies and hypoplasia of the tongue. Additional features were shortness of the neck associated with torticollis. Radiographs of the cervical spine were non-contributory, but 3D computed tomography (CT) scanning of this area identified: a) congenital hypoplasia of the atlas; b) the simultaneous development of occiput-atlas malformation/developmental defect. To our knowledge, this is the first clinical report assessing the cervico-cranium malformation in a child with OMLH-Möbius syndrome.

Background

Trauma is the main cause of occiput-atlas abnormality in pediatric acute care practice. Young children are especially vulnerable to this injury because of their small occipital condyles and horizontally oriented atlanto-occipital joints [1]. Trauma can cause injury or rupture of the tectorial membrane and the alar ligaments that allow movement of the cranium relative to the spine [2, 3]. We report a 5 years old boy who presented with the full clinical criteria of the Oromandibular-limb hypogenesis (OMLH)-Möbius syndrome. Additional unusual features were short neck and torticollis. Computed tomography (CT) of the craniocervical region was the imaging of choice, and features compatible with occiput-atlas developmental defect and a hypoplastic atlas were identified. Previous reports have discussed the hazardous outcome of occiput-atlas developmental abnormality in the normal pediatric population, but none has related the occiput-atlas injury to a preexisting craniocervical defect. In our knowledge, this is the first report of an association of occiput-atlas developmental abnormality with OMLH-Möbius complex.

Case report

Clinical presentation

The patient was born at full term following an uneventful gestation, to a 33 years old mother, with a four-year history of unexplained, primary infertility. At birth, he weighed 2750 g (50 centile), and had a length of 46 cm (3rd centile) and an occipitofrontal circumference (OFC) of 32 cm (50th centile). The mother was married to a 36-year old man who was her first cousin. The family history was non-contributory. No relevant family history of thromophilic disorders or any history of acquired thrombophilia has been identified.

Presentation at birth was vertex, and a number of congenital malformations were noted, including malformations of the hands and feet, bilateral strabismus and a small tongue. Respiratory functions were normal, although syringe feeding was necessary for the first seven months of life.

On examination at nine months of age (Figure 1), the child had a normal motor development and hearing, but the coordination was impaired. The body length and weight, and OFC were around the 25th centile. It has been noted an expressionless face (due to bilateral VII nerve palsies), a prominent forehead, depressed nasal bridge, bulbous nose, defective ocular rotation and bilateral strabismus (due to VI nerve palsies). The philtrum was long, with a very thin upper lip and inwardly depressed lower lip, micrognathia, and low set ears. The neck was short with limitations of head movements.
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Figure 1

Proband phenotype.

Although the chest was normal (no associated Poland anomaly), the hands were abnormal with a sub-total absence of the phalanges and preservation of hypoplastic thumbs and hypoplastic 5th fingers (Figure 2). There was also a bilateral adactyly of the feet. The pelvic bones, spinal column and genitalia were normal, as was the ultrasound scan of the kidneys. The sagittal magnetic resonance imaging (MRI) showed a hypoplastic tongue but no associated Arnold-Chiari malformation was detected (Figure 3).
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Figure 2

Proband phenotype and hands: Subtotal absence of the phalanges (preservation of the hypoplastic thumbs and hypoplastic 5th fingers, respectively).

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Figure 3

Sagittal MRI imaging, showed markedly hypoplastic tongue.

Examination at five years revealed short stature, height being 109 cm (-3SD), and a normal skull circumference of 50 cm. The boy had normal comprehension and receptive language development, but difficulties in expressive language. There were no abnormal neurological findings, except for the cranial nerve palsies (bilateral facial and abducens nerve palsies), which were unchanged. Severe myopia (-8 diopters), shortness of the neck and torticollis have been found and was investigated accordingly (Figures 4, 5, 6). Metabolic screening, chromosomal studies, and hormonal studies of Thyroid-Stimulating Hormone (TSH), Triiodothyronine (T3) and Thyroxine (T4) gave normal results. All basic hematological tests were within normal limits.
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Figure 4

3D reconstruction CT scan ; Hypoplastic anterior arch of the atlas and the impacted os terminale of the odontoid (arrow) between the two halves of the maldeveloped anterior arch of the atlas-the os terminale usually fuses at 12 years of age-this can be confused with fracture.

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Figure 5

3D sagittal CT scan; Agenesis of the posterior arch of the atlas (arrow-a). Arrow (b) notes the Wachenheim clivus line, which is drawn along the posterior aspect of the clivus toward the odontoid process; in our patient the line does not intersect or is it tangential to the odontoid process. The latter confirms the existence of progressive craniocervical abnormality.

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Figure 6

3D reconstruction CT scan showed agenesis of posterior arch of the atlas.

Imaging examination

Cerebral MRI and CT scan showed no associated cerebral abnormalities.

Renal and abdominal ultrasound examination showed normal genito-urinary system.

Discussion

The hypoglossia/hypodactyly syndrome, the Möbius syndrome, the Hanhart syndrome, the Charlie M syndrome and OMLH are possibly variants of the same condition, and it is often difficult to define the phenotypic boundaries between them [411]. There have been a number of studies that reported additional abnormalities but none of these studies have investigated the craniocervical junction [1216].

Congenital absence or hypoplasia of the posterior arch of the atlas may be associated with several conditions, such as gonadal dysgenesis, and Klippel-Feil, Turner and Down syndromes. In Down syndrome, the hypoplasia of the posterior arch of C1 may lead to a compensatory hypertrophy of the anterior arch of C1 and the spinous processes of C2 [17], whereas in our patient there was a total agenesis of the posterior arch and simultaneous hypoplasia of the anterior arch.

Occiput-atlas abnormality/injury as a result of trauma has been frequently reported in the pediatric emergency practice. It is often fatal, or there may be severe neurological sequelae [1, 1820].

Occiput-atlas injury can also occur in otherwise normal children. Under normal circumstances, there is a minimal rotation between the occiput and atlas, and 50% of cervical rotation occurs between the C1 and C2 articulation [21, 22]. However, when a hypoplastic atlas exists, the rotation can be problematic and can lead to abnormal rotation of the upper cervical spine. Rotation then exceeds its normal safe limits, and the spinal cord might be injured. Index that measures the craniocervical integrity is the atlantodens interval (ADI). It is defined as the distance between the anterior aspect of the dens and the posterior aspect of the anterior ring of the atlas, and it should be 5 mm or less [1]. ADI is a marker indicating the normality of the transverse ligament and the alar ligaments, but in patients with hypoplastic atlas, proper measurements cannot be made and the absence of distinctive dens/atlas boundaries make this evaluation most difficult.

We believe that this is the first report of a craniocervical junction malformation in association with OMLH-Möbius syndrome. The hypoplastic atlas abnormality may have an important impact, as it has the propensity to develop into a more profound craniocervical complication. As the conventional radiographic evaluation of the craniocervical junction can be difficult and insufficient to recognize the abnormality (due to rotation and superimposition of the structures), CT imaging is highly recommended.

Conclusion

This study demonstrates the association of OMLH-Möbius syndrome with torticollis and underlying malformation of the atlas. The latter anomaly may alter the bone-ligament complex and its control on the functions of the craniocervical junction, which is composed of three bones (occipital bone, atlas-axis) and their ligaments. Therefore, the craniocervical junction risks should be carefully assessed and CT is proposed as a valuable neuroimaging technique for craniocervical junction evaluation.

Abbreviations

OMLH: 

Oromandibular-Limb Hypogenesis)

OFC: 

(Occipito-Frontal-Circumference)

TSH: 

(Thyroid-Stimulating Hormone)

T3: 

(Triiodothyronine)

T4: 

(Thyroxine)

ADI: 

(Atlantodens Interval)

Declarations

Acknowledgements

We wish to thank Dr Michael Baraitser (Institute of Child Health-Clinical and Molecular Genetics-University College London) for his help in reviewing the paper.

We thank Dr. Marwa Hilmi, West Hertfordshire Hospitals, Watford Herts, UK for her technical support.

Authors’ Affiliations

(1)
Ludwig Boltzmann Institute of Osteology at the Hanusch Hospital of WGKK and AUVA Trauma Centre Meidling, 4th Medical Department, Hanusch Hospital
(2)
Pediatric Department, Orthopedic Hospital of Speising
(3)
Department of Pediatric Orthopedic Surgery-Children Hospital of Tunis
(4)
Department of Imaging Studies, Ibn Zohr Institute of Radiology

References

  1. Roche C, Carty H: Spinal trauma in children. Pediatr Radiol. 2001, 31: 677-700. 10.1007/s002470100532.View ArticlePubMedGoogle Scholar
  2. Grabb BC, Frye TA, Hedlund GL, Vaid YN, Grabb PA, Royal SA: MRI diagnosis of suspected atlanto-occipital dissociation in childhood. Pediatr Radiol. 1999, 29: 275-281. 10.1007/s002470050588.View ArticlePubMedGoogle Scholar
  3. Harris JH, Mirvis SE: The normal cervical spine. The radiology of acute cervical spine trauma. 3rd edition. Baltimore, Md: Williams & Wilkins; 1996:1-73.Google Scholar
  4. Hall BD: Aglossia-adactylia. Birth Defects Orig Artic Ser. 1971, 7: 233-236.PubMedGoogle Scholar
  5. Hanhart E: Ueber die Kombination von Peromelie mit Mikrognathie, ein neues Syndrom beim Menschen, entsprechend der Akroteriasis congenita von Wriedt und Mohr beim Rind. Arch Klaus-Stift Ver. 1950, 25: 531-543.Google Scholar
  6. Kaplan P, Cummings C, Fraser FC: A community of face-limb malformation syndromes. J Pediatr. 1976, 89: 241-247. 10.1016/S0022-3476(76)80456-8.View ArticlePubMedGoogle Scholar
  7. Gorlin RJ, Cohen MM, Hennekam RCM: Syndromes of the head and neck. 4th edition. Oxford University Press; 2001:822-826.Google Scholar
  8. Cohen MM, Pantke H, Siris E: Nosologic and genetic considerations in the aglossy-adactyly syndrome. Birth Defects Orig Artic Ser. 1971, 7: 237-240.PubMedGoogle Scholar
  9. Herrmann J, Pallister PD, Gilbert EF, Vieseskul C, Bersu E, Pettersen JC, Opitz JM: Studies of malformation syndromes of man XXXXIB. Nosologic studies in the Hanhart and the Mobius syndrome. Eur J Pediatr. 1976, 122: 19-55. 10.1007/BF00445030.View ArticlePubMedGoogle Scholar
  10. Thorp MA, de Waal PJ, Prescott CA: Extreme microglossia. Int J Ped Otorhinolaryngol. 2003, 67: 473-477. 10.1016/S0165-5876(03)00003-X.View ArticleGoogle Scholar
  11. Camera G, Camera A, Verrina G, Trasino S, Malvasio S: Spettro pogenesia oromandibolare-arti: Presentazione di un caso di ankyloglossia inferior associata con apodia bilaterale. Pathologica. 1994, 86: 110-112.PubMedGoogle Scholar
  12. Camera G, Ferrari G, Rossello MI, Camera A: "Angel-shaped phalanx" in a boy with oromandibular-limb hypogenesis. Am J Med Genet A. 2003, 119: 87-88. 10.1002/ajmg.a.10200.View ArticleGoogle Scholar
  13. Dunham ME, Austin TL: Congenital aglossia and situs inversus. Int J Pediatr Otorhinolaryngol. 1990, 19: 163-168. 10.1016/0165-5876(90)90222-D.View ArticlePubMedGoogle Scholar
  14. Robertson SP, Bankier A: Oromandibular limb hypogenesis complex (Hanhart syndrome): A severe adult phenotype. Am J Med Genet. 1999, 83: 427-429. 10.1002/(SICI)1096-8628(19990423)83:5<427::AID-AJMG18>3.0.CO;2-H.View ArticlePubMedGoogle Scholar
  15. Buttiens M, Fryns JP: Apparently new autosomal recessive syndrome of mental retardation, distal limb deficiencies, oral involvement and possible renal defect. Am J Med Genet. 1987, 27: 651-660. 10.1002/ajmg.1320270319.View ArticlePubMedGoogle Scholar
  16. Keymolen K, Van Damme-Lombaerts R, Verloes A, Fryns JP: Distal limb deficiencies, oral involvement, and renal defect: report of a third patient and confirmation of a distinct entity. Am J Med Genet. 2000, 93: 19-21. 10.1002/1096-8628(20000703)93:1<19::AID-AJMG4>3.0.CO;2-T.View ArticlePubMedGoogle Scholar
  17. Motateanu M, Gudinchet F, Sarraj H, Schnyder P: Case report 665. Congenital absence of posterior arch of atlas. Skeletal Radiol. 1991, 20: 231-232. 10.1007/BF00241677.View ArticlePubMedGoogle Scholar
  18. Pathria MN, Petersilge CA: Spinal trauma. Radiol Clin North Am. 1991, 29: 847-865.PubMedGoogle Scholar
  19. Maves CK, Souza A, Prenger EC, Kirks DR: Traumatic atlanto-occipital disruption in children. Pediatr Radiol. 1991, 21: 504-507. 10.1007/BF02011724.View ArticlePubMedGoogle Scholar
  20. Harris JH, Carson GC, Wagner LK: Radiologic diagnosis of traumatic occipitovertebral dissociation. 1. Normal occipitovertebral relationships on lateral radiographs of supine subjects. AJR Am J Roentgenol. 1994, 162: 881-886.View ArticlePubMedGoogle Scholar
  21. Phillips WA, Hensinger RN: The management of rotatory atlanto-axial subluxation in children. J Bone Joint Surg Am. 1989, 71: 664-668.PubMedGoogle Scholar
  22. Muniz AE, Belfer RA: Atlantoaxial rotary subluxation in children. Pediatr Emerg Care. 1999, 15: 25-29.View ArticlePubMedGoogle Scholar

Copyright

© Kaissi et al; licensee BioMed Central Ltd. 2007

This article is published under license to BioMed Central Ltd. This is an Open Access article distributed under the terms of the Creative Commons Attribution License (http://creativecommons.org/licenses/by/2.0), which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.

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