“…There are two major skeletal dislocation syndromes in the differential, Desbuquois dysplasia (DBD) and Larsen syndrome [Lachman, 2007; Warman et al, 2011]. Desbuquois et al [1966] and later other authors have described a unique form of micromelic chondrodysplasia with multiple joint dislocations, round face, midface hypoplasia, glaucoma, and cardiac defects.…”
We describe a series of seven male patients from six different families with skeletal dysplasia, characteristic facial features, and developmental delay. Skeletal findings include patellar dislocation, short tubular bones, mild metaphyseal changes, brachymetacarpalia with stub thumbs, short femoral necks, shallow acetabular roofs, and platyspondyly. Facial features include: a flattened midface with broad nasal bridge, cleft palate or bifid uvula and synophrys. All of the patients demonstrated pre-school onset of a cognitive developmental delay with a shortened attention span. Some of the cognitive delay was masked by a warm and engaging personality. We posit that these individuals have a newly recognized syndrome characterized by the described features. There is some phenotypic overlap between these patients and Desbuquois dysplasia; however molecular testing demonstrated that this is a distinct disorder. Given the family information available for each patient, we are suspicious that the constellation of findings reported herein could be an X-linked recessive syndrome.
“…There are two major skeletal dislocation syndromes in the differential, Desbuquois dysplasia (DBD) and Larsen syndrome [Lachman, 2007; Warman et al, 2011]. Desbuquois et al [1966] and later other authors have described a unique form of micromelic chondrodysplasia with multiple joint dislocations, round face, midface hypoplasia, glaucoma, and cardiac defects.…”
We describe a series of seven male patients from six different families with skeletal dysplasia, characteristic facial features, and developmental delay. Skeletal findings include patellar dislocation, short tubular bones, mild metaphyseal changes, brachymetacarpalia with stub thumbs, short femoral necks, shallow acetabular roofs, and platyspondyly. Facial features include: a flattened midface with broad nasal bridge, cleft palate or bifid uvula and synophrys. All of the patients demonstrated pre-school onset of a cognitive developmental delay with a shortened attention span. Some of the cognitive delay was masked by a warm and engaging personality. We posit that these individuals have a newly recognized syndrome characterized by the described features. There is some phenotypic overlap between these patients and Desbuquois dysplasia; however molecular testing demonstrated that this is a distinct disorder. Given the family information available for each patient, we are suspicious that the constellation of findings reported herein could be an X-linked recessive syndrome.
“…Incomplete ossification of the dens is a near universal finding in MPS IVA and leads to dens hypoplasia or os odontoideum. Other spinal anomalies include generalized platyspondyly, anterior vertebral beaking, and thoracolumbar kyphosis, all represented by the term “dysostosis multiplex” (Lachman 2007). Fig.…”
Section: Spectrum Of Spinal Involvement In Mps Ivamentioning
Mucopolysaccharidosis IVA (MPS IVA), also known as Morquio-Brailsford or Morquio A syndrome, is a lysosomal storage disorder caused by a deficiency of the enzyme N-acetyl-galactosamine-6-sulphate sulphatase (GALNS). MPS IVA is multisystemic but manifests primarily as a progressive skeletal dysplasia. Spinal involvement is a major cause of morbidity and mortality in MPS IVA. Early diagnosis and timely treatment of problems involving the spine are critical in preventing or arresting neurological deterioration and loss of function. This review details the spinal manifestations of MPS IVA and describes the tools used to diagnose and monitor spinal involvement. The relative utility of radiography, computed tomography (CT) and magnetic resonance imaging (MRI) for the evaluation of cervical spine instability, stenosis, and cord compression is discussed. Surgical interventions, anaesthetic considerations, and the use of neurophysiological monitoring during procedures performed under general anaesthesia are reviewed. Recommendations for regular radiological imaging and neurologic assessments are presented, and the need for a more standardized approach for evaluating and managing spinal involvement in MPS IVA is addressed.
“…Although several lymphatic and urinary tract abnormalities have been reported in Noonan's syndrome, 2,3 there has been no report in the literature in which direct communication between these two systems have been described.…”
Section: Discussionmentioning
confidence: 99%
“…These include lymphoedema, pulmonary lymphagectasis, intestinal and testicular lymphangiectasis, cystic hygroma, chylothorax and lymphatic dysplasia of the lip. 3 Lymphatic dysplasia/hypoplasia has also been reported in 15–20% of patients with Noonan's syndrome. 7 This condition has been linked to mutations in PTPN11 encoding the protein tyrosine phosphatase SHP-2 in more than 50% of cases studied.…”
Section: Discussionmentioning
confidence: 99%
“…9 When obstructive lymphatic changes are present collateral formation in the retroperitoneal, mediastinal and cervical lymphatics 3 has been observed. Urinary tract abnormalities including obstructive uropathy secondary to pyeloureteral stenosis duplication of the collecting system, renal hypoplasia and polycystic renal disease have also been described in Noonan's syndrome.…”
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