Nail-Patella Syndrome Associated with Short Stature: A Case Series

Haddad, Samir H.; Ghedira-Besbes, Leila; Bouafsoun, Chahra; Hammami, S.; Chouchene, S.; Meriem, C. Ben; Guédiche, M.N.

doi:10.1155/2010/869470

Cited by 4 publications

(4 citation statements)

References 5 publications

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“…15 Short stature has been reported in few instances in patients with clinical and radiological diagnosis of NPS. 16 We therefore cannot conclude if the short stature described in our patients are only explained by the haploinsufficiency of LMX1B or also by neighboring genes. In addition, about 30-50% of patients develop nephropathy, manifesting as proteinuria with or without hematuria, and possibly evolving into nephrotic syndrome and glomerulonephritis.…”

Section: Discussionmentioning

confidence: 72%

9q33.3q34.11 microdeletion: new contiguous gene syndrome encompassing STXBP1, LMX1B and ENG genes assessed using reverse phenotyping

et al. 2015

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The increasing use of array-CGH in malformation syndromes with intellectual disability could lead to the description of new contiguous gene syndrome by the analysis of the gene content of the microdeletion and reverse phenotyping. Thanks to a national and international call for collaboration by Achropuce and Decipher, we recruited four patients carrying de novo overlapping deletions of chromosome 9q33.3q34.11, including the STXBP1, the LMX1B and the ENG genes. We restrained the selection to these three genes because the effects of their haploinsufficency are well described in the literature and easily recognizable clinically. All deletions were detected by array-CGH and confirmed by FISH. The patients display common clinical features, including intellectual disability with epilepsy, owing to the presence of STXBP1 within the deletion, nail dysplasia and bone malformations, in particular patellar abnormalities attributed to LMX1B deletion, epistaxis and cutaneousmucous telangiectasias explained by ENG haploinsufficiency and common facial dysmorphism. This systematic analysis of the genes comprised in the deletion allowed us to identify genes whose haploinsufficiency is expected to lead to disease manifestations and complications that require personalized follow-up, in particular for renal, eye, ear, vascular and neurological manifestations.

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Section: Discussionmentioning

confidence: 72%

9q33.3q34.11 microdeletion: new contiguous gene syndrome encompassing STXBP1, LMX1B and ENG genes assessed using reverse phenotyping

et al. 2015

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“…There are similar syndromes in the differential diagnosis, such as Meier-Gorlin syndrome, RAPADILINO syndrome, which differ due to the presence of microtia, a characteristic facies and bone age retardation in the first syndrome, and for a palatine fissure, facial dysmorphia and radial ray defects in the second one 10 . There is only one report in which the short stature (-4.0 SD) was associated with NPS in two sisters from Tunisia, however, they did not have a molecular confirmation and the segment description of the physical examination was not reported 11 . Thyroid structure alterations have not been described in this syndrome yet.…”

Section: Discussionmentioning

confidence: 95%

Talla baja e hipotiroidismo en un niño con Síndrome de Nail-Patella. Reporte de un caso clínico

Goecke

Mellado

García

et al. 2018

Rev. chil. pediatr.

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Background: Nail-Patella syndrome (NPS) (OMIM: 161200) or hereditary onycho-osteodysplasia is an autosomal dominant disorder characterized by skeletal anomalies, nail dysplasia, renal and ocular abnormalities. The diagnosis is based on clinical and radiological findings and confirmed by the identification of a heterozygous pathogenic variant in the LMX1B gene. Management of these patients involves continuous follow-up and treatment of the orthopedical, ocular and renal problems that may occur. Objective: To describe a case of NPS with short stature and hypothyroidism, an association that has not been described in the literature. Case report: An eleven-year-old boy with a height of 130 cm (-2.01 Standard Deviations [SD]) was referred to the Endocrine Unit at the age of 2 years due to altered thyroid tests. At that time, dysplastic nails and disproportionate short stature were detected. Radiological abnormalities initially suggested a skeletal dysplasia. A primary hypothyroidism was confirmed, without anti-thyroid antibodies and with a normal thyroid ultrasound. Levothyroxine treatment was initiated. The diagnosis of NPS was confirmed by a genetic study with a single pathogenic variant in the LMX1B gene. His father presented a similar phenotype with normal stature. His bone age was equivalent to his chronological age. Laboratory screening for short stature and a GH stimulation test were normal. Conclusion: We present a child with proven NPS with short stature and hypothyroidism. We did not find publications that described this triple association. It can't be ruled out that there could be a relationship between NPS and the thyroid alterations found in this patient.

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“…Other bone abnormalities including pes planus, pes equinovarus, pectus excavatum and scoliosis may be associated with NPS. The association with short stature is exceptional …”

Section: Discussionmentioning

confidence: 99%

“…The association with short stature is exceptional. 13 Diagnosis is based on clinical findings. LMX1B is the only gene mutation known to cause NPS.…”

Section: Discussionmentioning

confidence: 99%