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Buenos Aires, Argentina

Bujan M.M.,Servicio de Dermatologia | Cervini A.B.,Servicio de Dermatologia | Fano V.,Servicio de Crecimiento y Desarrollo | Pierini A.M.,Servicio de Dermatologia
Archivos Argentinos de Pediatria | Year: 2010

Sumary Albright's hereditary osteodystrophy includes an heterogeneous group of genetic diseases, including the pseudohypoparathyroidism type Ia and pseudo-pseudohypoparathyroidism. Features of this disease are: round faces, over-weight, subcutaneous calcifications and brachydactylia. Pseudohypoparathyroidism type Ia is associated with laboratory abnormalities such as hypocalcemia, and hyperphosphatemia due to parathormone resistance. Furthermore, these patients may present peripheral resistance to other hormones, such as gonadotrophins and thyroids. Pseudo-pseudohypoparathyroidism has no peripheral resistance to these hormones. We present three patients evaluated in our hospital with clinical manifestations of Albright's syndrome.

De Rosa M.L.G.,Servicio de Genetica Medica | Fano V.,Servicio de Crecimiento y Desarrollo | Araoz H.V.,Servicio de Genetica Medica | Chertkoff L.,Servicio de Genetica Medica | Obregon M.G.,Servicio de Genetica Medica
American Journal of Medical Genetics, Part A | Year: 2014

We describe a 16-month-old male with N540K homozygous mutation in the FGFR3 gene who showed a more severe phenotype than hypochondroplasia (HCH). To our knowledge, a homozygous state for this mutation causing HCH has not been reported before. The clinical and radiological characteristics of our patient represent an intermediate condition between achondroplasia and achondroplasia/hypochondroplasia compound heterozygosity. This case represents a new expression of FGFR3 spectrum and it is of considerable importance for the genetic counseling in cases where both parents are affected with HCH. © 2014 Wiley Periodicals, Inc.

Fano V.,Servicio de Crecimiento y Desarrollo | Rodriguez Celin M.,Servicio de Crecimiento y Desarrollo | Del Pino M.,Servicio de Crecimiento y Desarrollo | Buceta S.,Servicio de Kinesiologia | And 4 more authors.
Anales de Pediatria | Year: 2010

Introduction: Osteogenesis Imperfecta (OI) is a genetic disease, in which the main clinical features are increased bone fragility, pathological fractures, blue sclera, dentinogenesis imperfecta and conductive or mixed hearing loss. Clinical variability is wide. Although there is no curative treatment, there are several therapeutic tools capable of improving the course of the condition and patient quality of life. Patients and methods: Sixty-five children seen in a Paediatric Hospital during six months in 2007 were evaluated. Results: Thirty-five were type I OI, and thirty were types IIIIV. Median age was 7.8 years (range 1.919.2); mean length of follow up was 4.7 years. The majority of children attended regular school for their corresponding age. Mean height was -1.4 sDS and -5.64 sDS in types I and IIIIV respectively. Nineteen percent of patients were overweight and 11% were obese. Mean age at first orthopaedic surgery inserting telescopic rods was 6.5 years. Scoliosis was present in 44.6% of patients and was directly related to severity. Bleck′s motor scale showed that 93% of patients with mild forms and 29% of severe forms had a sustainable walking ability. A wheelchair was used by 25% of patients. Family inheritance was confirmed in 65% of cases. Conclusions: Integral care using a multidisciplinary approach is required due to the complexity and clinical variability of the condition. © 2009 Asociación Españolade Pediatría.

Caino S.,Servicio de Crecimiento y Desarrollo | Dello Ruso B.,Servicio de Ortopedia y Traumatologia | Fano V.,Servicio de Crecimiento y Desarrollo | Obregon M.G.,Servicio de Genetica
Anales de Pediatria | Year: 2012

Tarsal-carpal coalition syndrome (TCC, OMIM #186570) is an autosomal dominant disorder characterised by fusion of the carpals, tarsals, and phalanges, with the short first metacarpals causing brachydactyly and humeroradial fusion. Mutations in the NOG gene have been reported in many families. We describe a family with carpal tarsal fusion seen at a Skeletal Dysplasia Clinic and look at the differential diagnoses. © 2012 Asociación Españolade Pediatría. Published by Elsevier España, S.L. All rights reserved.

Caino S.,Servicio de Crecimiento y Desarrollo | Kelmansky D.,University of Buenos Aires | Adamo P.,Servicio de Crecimiento y Desarrollo | Lejarraga H.,Servicio de Crecimiento y Desarrollo
Annals of Human Biology | Year: 2010

Background: Daily changes in height have been found to be a non-linear process. Its exact pattern is still controversial. In previous studies on 34 healthy children aged 0.3212.99 years, we found that growth is a tri-phasic process: stasis, steep changes (or saltation) and continuous growth. There is very little information in the literature about daily changes in head circumference. Aim: The present study analysed growth in head circumference and supine length in eight healthy infants. Subject and methods: Supine length and head circumference was measured five times a week during 151 days. Mean intra-observer technical error of measurement (TEM) for head circumference and supine length were 0.10 and 0.15 cm, respectively; smoothing techniques used were based on the TEM with a hard rejection criterion. Results: The three types of events previously found in supine length are also present in head circumference. The number of steep changes was greater in supine length than in head circumference. Conclusion: Growth is a discontinuous and irregular process, present not only in long bones but also in skull bones. Although long-term growth curves of head circumference and supine length are different, when measured on a daily basis findings suggest that skull and long bones have a common pattern; the physiological basis needs future research. © 2009 Informa UK Ltd.

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