Summary
Deletions of the long arm of chromosome 4 (4q) are rare, with an estimated incidence
of roughly 1 in 10,000 live births.
1
Patients present with a constellation of findings, including cardiac malformations,
micrognathia in the setting of Pierre Robin sequence, microcephaly, genitourinary
anomalies, short stature, anomalies of the small fingers of the hand, moderate or
severe learning disability, and/or severe psychomotor retardation
2
,
3
,
4
The dysmorphic features include hypertelorism, a broad nasal bridge, with a short
nose and anteverted nares, a long philtrum, a thin upper lip, and micrognathia. The
cardiopulmonary complications, including asphyxia and apnea contribute significantly
to morbidity and mortality. The authors describe a patient with 4q deletion syndrome
and respiratory difficulty, secondary to Robin sequence. They report the successful
use of distraction osteogenesis to address the associated micrognathia and tongue
displacement and avoid long-term tracheostomy.Keywords
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References
- The 4q-syndrome.Genet Couns. 2001; 12: 327-339
- Deletions of different segments of the long arm of chromosome 4.Am J Med Genet. 1981; 8: 73-89
- Interstitial deletion 4q32–34 with ulnar deficiency: 4q33 may be the critical region in 4q terminal deletion syndrome.Am J Med Genet. 2001; 99: 94-98
- The tale of a nail sign in chromosome 4q34 deletion syndrome.Clin Dysmorphol. 2006; 15: 127-132
- Lengthening of the human mandible by gradual distraction.Plast Reconstr Surg. 1992; 51: 506-508
- Distraction osteogenesis in Pierre Robin neonates with airway obstruction.Clin Plast Surg. 2004; 31: 221-229
- Mandibular elongation and remodeling by distraction: a farewell to major osteotomies.Plast Reconstr Surg. 1995; 96: 825-840
- Mandibular distraction in a neonate with muscular dystrophy.Ann Plast Surg. 2005; 55: 519-523
- Mandibular distraction for amnionic band syndrome.Ann Plast Surg. 2007; 59: 334-337
- A large deletion of the long arm of chromosome No. 4 in a child with limb abnormalities.Arch Dis Child. 1967; 42: 428-434
Article info
Publication history
Published online: December 12, 2011
Accepted:
November 10,
2011
Received:
June 16,
2011
Identification
Copyright
© 2011 British Association of Plastic, Reconstructive and Aesthetic Surgeons. Published by Elsevier Inc. All rights reserved.
