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Isolated Sagittal Synostosis in a Boy with Craniofrontonasal Dysplasia and a Novel EFNB1 Mutation.

Chauhan BK, Hoover JM, Scanga H, Medsinge A, Arnold GL, Nischal KK - Plast Reconstr Surg Glob Open (2015)

Bottom Line: A 7-year-old boy presented with hypertelorism, broad nasal root, midfacial hypoplasia, mandibular prognathia, ptosis, and scaphocephaly was clinically diagnosed with CFNS.Three-dimensional computed tomographic scans confirmed the isolated sagittal synostosis.To the best of our knowledge, this is the only reported incident of CFNS in a male child exhibiting isolated sagittal synostosis.

View Article: PubMed Central - PubMed

Affiliation: UPMC Eye Center, Children's Hospital of Pittsburgh, Pittsburgh, Pa.; Department of Ophthalmology, University of Pittsburgh School of Medicine, Pittsburgh, Pa.; and Division of Medical Genetics, Children's Hospital of Pittsburgh of UPMC, Pittsburgh, Pa.

ABSTRACT
Craniofrontonasal syndrome (CFNS) is a rare X-linked disorder that shows greater severity in females and is largely attributed to mutations in EFNB1. A 7-year-old boy presented with hypertelorism, broad nasal root, midfacial hypoplasia, mandibular prognathia, ptosis, and scaphocephaly was clinically diagnosed with CFNS. Three-dimensional computed tomographic scans confirmed the isolated sagittal synostosis. His mother also showed clinical features of CFNS, but less severe. Genetic tests uncovered a novel C to T mutation at nucleotide 466 (c.466C>T) in exon 1 of EFNB1 for both. To the best of our knowledge, this is the only reported incident of CFNS in a male child exhibiting isolated sagittal synostosis.

No MeSH data available.


Related in: MedlinePlus

Computed tomography scans demonstrating sagittal synostosis, mandibular prognathia, and dental crowding in the lower mandible. A, Front view. B, Right-side profile.
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Figure 2: Computed tomography scans demonstrating sagittal synostosis, mandibular prognathia, and dental crowding in the lower mandible. A, Front view. B, Right-side profile.

Mentions: A 7-year-old boy with sagittal synostosis was referred for ophthalmic evaluation to rule out raised intracranial pressure. His family history was unremarkable. However, on examination, his mother was noted to have hypertelorism and a broad nasal tip along with a medical history of an umbilical hernia and widely spaced incisors. The patient’s initial symptoms included frequent headaches, history of obstructive sleep apnea, and abnormal head shape. Examination confirmed scaphocephaly, microcephaly, midfacial hypoplasia, mandibular prognathia, ptosis with upslanting palpebral fissures, large ears (>97th percentile), broad nasal root and bridge with an inner canthal distance of 3.7 cm (>97th percentile), and interpupillary distance of 6.9 cm (>97th percentile) suggestive of hypertelorism (Fig. 1). His intraoral examination revealed an intact palate with class III malocclusion and widely spaced incisors. A three-dimensional computed tomographic scan of the head (Fig. 2) revealed fusion of the sagittal suture only and mandibular prognathia with crowding of the teeth. Fundus examination was negative for papilledema, but revealed bilateral mild exocyclotorsion of the fundi. The patient also exhibited hyperopia with astigmatism in both eyes. The facial appearance together with the eye findings pointed to a diagnosis of CFNS.


Isolated Sagittal Synostosis in a Boy with Craniofrontonasal Dysplasia and a Novel EFNB1 Mutation.

Chauhan BK, Hoover JM, Scanga H, Medsinge A, Arnold GL, Nischal KK - Plast Reconstr Surg Glob Open (2015)

Computed tomography scans demonstrating sagittal synostosis, mandibular prognathia, and dental crowding in the lower mandible. A, Front view. B, Right-side profile.
© Copyright Policy
Related In: Results  -  Collection

Show All Figures
getmorefigures.php?uid=PMC4494497&req=5

Figure 2: Computed tomography scans demonstrating sagittal synostosis, mandibular prognathia, and dental crowding in the lower mandible. A, Front view. B, Right-side profile.
Mentions: A 7-year-old boy with sagittal synostosis was referred for ophthalmic evaluation to rule out raised intracranial pressure. His family history was unremarkable. However, on examination, his mother was noted to have hypertelorism and a broad nasal tip along with a medical history of an umbilical hernia and widely spaced incisors. The patient’s initial symptoms included frequent headaches, history of obstructive sleep apnea, and abnormal head shape. Examination confirmed scaphocephaly, microcephaly, midfacial hypoplasia, mandibular prognathia, ptosis with upslanting palpebral fissures, large ears (>97th percentile), broad nasal root and bridge with an inner canthal distance of 3.7 cm (>97th percentile), and interpupillary distance of 6.9 cm (>97th percentile) suggestive of hypertelorism (Fig. 1). His intraoral examination revealed an intact palate with class III malocclusion and widely spaced incisors. A three-dimensional computed tomographic scan of the head (Fig. 2) revealed fusion of the sagittal suture only and mandibular prognathia with crowding of the teeth. Fundus examination was negative for papilledema, but revealed bilateral mild exocyclotorsion of the fundi. The patient also exhibited hyperopia with astigmatism in both eyes. The facial appearance together with the eye findings pointed to a diagnosis of CFNS.

Bottom Line: A 7-year-old boy presented with hypertelorism, broad nasal root, midfacial hypoplasia, mandibular prognathia, ptosis, and scaphocephaly was clinically diagnosed with CFNS.Three-dimensional computed tomographic scans confirmed the isolated sagittal synostosis.To the best of our knowledge, this is the only reported incident of CFNS in a male child exhibiting isolated sagittal synostosis.

View Article: PubMed Central - PubMed

Affiliation: UPMC Eye Center, Children's Hospital of Pittsburgh, Pittsburgh, Pa.; Department of Ophthalmology, University of Pittsburgh School of Medicine, Pittsburgh, Pa.; and Division of Medical Genetics, Children's Hospital of Pittsburgh of UPMC, Pittsburgh, Pa.

ABSTRACT
Craniofrontonasal syndrome (CFNS) is a rare X-linked disorder that shows greater severity in females and is largely attributed to mutations in EFNB1. A 7-year-old boy presented with hypertelorism, broad nasal root, midfacial hypoplasia, mandibular prognathia, ptosis, and scaphocephaly was clinically diagnosed with CFNS. Three-dimensional computed tomographic scans confirmed the isolated sagittal synostosis. His mother also showed clinical features of CFNS, but less severe. Genetic tests uncovered a novel C to T mutation at nucleotide 466 (c.466C>T) in exon 1 of EFNB1 for both. To the best of our knowledge, this is the only reported incident of CFNS in a male child exhibiting isolated sagittal synostosis.

No MeSH data available.


Related in: MedlinePlus