We have a intersting case,suspect to Nail patella sindromeis it posible to derminate this sindrome in neonatal period

Edited July 9, 200817 yr by JACK

The Nail–Patella Syndrome (Fong Syndrome) is inherited as autosomal dominant (AD). Is caused by a defect in the LMX1B gene that is characterized by hypoplastic patella, nail dystrophy with triangular lunula, posterior iliac horns, pigmentation of the margin of the pupils (Lester iris), and glomerulonephropathy. Triangular nail lunulae is the pathognomonic sign of this syndrome.

The incidence approaches 1 in 50,000 live births. The classical tetrad of anomalies of the nails, elbows and knees, and iliac horns was described by Mino et al. in 1948. In addition to ocular and renal involvement, recently neurological and gastrointestinal symptoms have also been described including depression and anxiety symptoms, epilepsy, peripheral neurological symptoms, irritable bowel syndrome and constipation. Uncommonly foot involvement may be present in the form of talipes equinovarus and equinovalgus. Congenital cataract may be a coincidental findings. In some patients proteinuria may be present right from birth. Some patients may have joint contractures noticed at birth. Gastrointestinal symptoms may also start right from birth.

Nail dysplasia (bilateral and symmetrical) is usually present at birth, but it has been noted to appear after birth .

Differential Diagnosis

• Coffin–Sirus syndrome

• Ectodermal dysplasias

• Pachyonychia congenita

• Psoriasis

Evaluation includes

• Renal function test

• Radiography of the pelvis and knees

• Ophthalmologic examination

• Urinalysis

There is a nice review available for free on Pubmed.

E. Sweeney et al., “Nail patella syndrome: a review of the phenotype aided by developmental biology,” Journal of Medical Genetics 40, no. 3 (March 2003), doi:10.1136/jmg.40.3.153.

This is the Link.

http://www.pubmedcentral.nih.gov/picrender.fcgi?artid=1735400&blobtype=pdf

I will quote from this study

Recommendations for the care of patients with NPS

• Annual screening for renal disease from birth. This should include

blood pressure and urine analysis. A urine albumin:creatinine

ratio on a first morning urine is preferable to urine analysis

dipsticks as it is a more sensitive measure and corrects for

concentration of the urine. If any abnormalities are detected the

patient should then be referred to a renal physician for further

investigation and follow up.

• Screening for glaucoma every two years in adulthood. This should

include measurement of intraocular pressure, examination of the

optic disc, and assessment of visual fields in order to detect

normal pressure glaucoma. If any abnormalities are detected,

patients should be referred to an ophthalmologist.

• Before treatment such as surgery or intensive physiotherapy is

considered for orthopaedic abnormalities, it is recommended that

information on possible abnormal anatomy of both bone and soft

tissue is acquired by magnetic resonance imaging (MRI).

• Genetic counselling should be offered to all patients with NPS.

We have a intersting case,suspect to Nail patella sindromeis it posible to derminate this sindrome in neonatal period

You will find in this article that the diagnosis of NPS though possible at birth is often missed at this time , and discovered later on if at all discovered. Please do share with us the clinical features in your patient.

Edited July 9, 200817 yr by JACK