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Bilateral radial ulnar synostosis and vertebral anomalies in a child with a de novo 16p13.3 interstitial deletion.

Tam A, Lee KS, Lee S, Burkhalter W, Pascua LU, Slavin TP - Case Rep Genet (2013)

Bottom Line: We describe an 8-year-old boy with developmental delay, clinical bilateral radial ulnar synostosis, Klippel-Feil anomaly, and other vertebral deformities who was found to have a de novo deletion of 114.5kb at 16p13.3.The specific deletion has never been previously reported.None of the regulatory elements have any known linkage to skeletal formation and/or maintenance.

View Article: PubMed Central - PubMed

Affiliation: University of Hawaii, John A. Burns School of Medicine, Honolulu, HI 96813, USA ; Hawaii Community Genetics, Ala Moana Building, 1441 Kapiolani Blvd, Suite 1800, Honolulu, HI 96814, USA.

ABSTRACT
We describe an 8-year-old boy with developmental delay, clinical bilateral radial ulnar synostosis, Klippel-Feil anomaly, and other vertebral deformities who was found to have a de novo deletion of 114.5kb at 16p13.3. The deletion contains five genes and three miRNAs. The genes are E4F1, DNASE1L2, ECI1, RNPS1, and ABCA3; miRNAs are MIR3677, MIR940, and MIR4717. The specific deletion has never been previously reported. We describe the phenotype of the boy and review the genes in the deleted region. None of the regulatory elements have any known linkage to skeletal formation and/or maintenance. We believe this deletion is causative given that it was de novo and that this patient cannot be easily explained as having any other specific recognizable pattern of human malformation.

No MeSH data available.


Related in: MedlinePlus

Photograph showing the patient's forearm with limitation of rotation (a). There is also hypoplasia of the thenar and hypothenar muscular prominences of his hands bilaterally. Radiograph of the right forearm (b). The arrow indicates the site of bony synostosis.
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fig1: Photograph showing the patient's forearm with limitation of rotation (a). There is also hypoplasia of the thenar and hypothenar muscular prominences of his hands bilaterally. Radiograph of the right forearm (b). The arrow indicates the site of bony synostosis.

Mentions: The patient's mother noted unusual arm positioning since birth. At the age of 7 the patient was referred to an orthopedist and was found to have bilateral radial ulnar synostosis by clinical exam (Figure 1(a)). Congenital fusions were also noted on cervical spine radiographs (Figure 2) obtained for restricted neck motion noted incidentally on physical examination. Plain radiographs of the right elbow revealed trochlear dysplasia and complete radial ulnar synostosis (Figure 1(a)). Dysplasia of the proximal radio-ulnar articulation was noted on the left leading to an incomplete, yet functionally nearly complete, synostosis. A true left bony synostosis was not confirmed on CT scan, although MRI was not completed to better define the fibrous ligament attachments. Radiographic assessment of the cervical spine was notable for eight cervical vertebrae and the Klippel-Feil anomaly with congenital fusions at C1-2 and C5-6. Imaging of the entire spine revealed other vertebral abnormalities including ā€œSā€ shaped scoliosis with 11-degree thoracic dextroconvex and 8-degree lumbar levoconvex scoliosis, absence of the right pedicle at L5 with abnormal articulation with the sacrum, and 13 sets of ribs (Figure 3).


Bilateral radial ulnar synostosis and vertebral anomalies in a child with a de novo 16p13.3 interstitial deletion.

Tam A, Lee KS, Lee S, Burkhalter W, Pascua LU, Slavin TP - Case Rep Genet (2013)

Photograph showing the patient's forearm with limitation of rotation (a). There is also hypoplasia of the thenar and hypothenar muscular prominences of his hands bilaterally. Radiograph of the right forearm (b). The arrow indicates the site of bony synostosis.
© Copyright Policy - open-access
Related In: Results  -  Collection

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getmorefigures.php?uid=PMC3713326&req=5

fig1: Photograph showing the patient's forearm with limitation of rotation (a). There is also hypoplasia of the thenar and hypothenar muscular prominences of his hands bilaterally. Radiograph of the right forearm (b). The arrow indicates the site of bony synostosis.
Mentions: The patient's mother noted unusual arm positioning since birth. At the age of 7 the patient was referred to an orthopedist and was found to have bilateral radial ulnar synostosis by clinical exam (Figure 1(a)). Congenital fusions were also noted on cervical spine radiographs (Figure 2) obtained for restricted neck motion noted incidentally on physical examination. Plain radiographs of the right elbow revealed trochlear dysplasia and complete radial ulnar synostosis (Figure 1(a)). Dysplasia of the proximal radio-ulnar articulation was noted on the left leading to an incomplete, yet functionally nearly complete, synostosis. A true left bony synostosis was not confirmed on CT scan, although MRI was not completed to better define the fibrous ligament attachments. Radiographic assessment of the cervical spine was notable for eight cervical vertebrae and the Klippel-Feil anomaly with congenital fusions at C1-2 and C5-6. Imaging of the entire spine revealed other vertebral abnormalities including ā€œSā€ shaped scoliosis with 11-degree thoracic dextroconvex and 8-degree lumbar levoconvex scoliosis, absence of the right pedicle at L5 with abnormal articulation with the sacrum, and 13 sets of ribs (Figure 3).

Bottom Line: We describe an 8-year-old boy with developmental delay, clinical bilateral radial ulnar synostosis, Klippel-Feil anomaly, and other vertebral deformities who was found to have a de novo deletion of 114.5kb at 16p13.3.The specific deletion has never been previously reported.None of the regulatory elements have any known linkage to skeletal formation and/or maintenance.

View Article: PubMed Central - PubMed

Affiliation: University of Hawaii, John A. Burns School of Medicine, Honolulu, HI 96813, USA ; Hawaii Community Genetics, Ala Moana Building, 1441 Kapiolani Blvd, Suite 1800, Honolulu, HI 96814, USA.

ABSTRACT
We describe an 8-year-old boy with developmental delay, clinical bilateral radial ulnar synostosis, Klippel-Feil anomaly, and other vertebral deformities who was found to have a de novo deletion of 114.5kb at 16p13.3. The deletion contains five genes and three miRNAs. The genes are E4F1, DNASE1L2, ECI1, RNPS1, and ABCA3; miRNAs are MIR3677, MIR940, and MIR4717. The specific deletion has never been previously reported. We describe the phenotype of the boy and review the genes in the deleted region. None of the regulatory elements have any known linkage to skeletal formation and/or maintenance. We believe this deletion is causative given that it was de novo and that this patient cannot be easily explained as having any other specific recognizable pattern of human malformation.

No MeSH data available.


Related in: MedlinePlus