[Different forms of clinical presentation of an autosomal dominant hypophosphatemic rickets caused by a FGF23 mutation in one family]. / Distintas formas de presentación clínica de un raquitismo hipofosfatémico autosómico dominante por mutación del factor de crecimiento fibroblástico 23 en una familia.

In this report we describe different forms of clinical presentation of an autosomal dominant hypophosphatemic rickets (ADHR) in 4 members of the same family as well as the treatment used in these patients and their response to it. Patient No 1: a 60 year old female who consulted for bone pain: Bone densitometry showed osteoporosis. Laboratory assays showed hypophosphatemia with low renal phosphate threshold, high total alkaline phosphatase, normal intact PTH and normal serum calcium. With neutral phosphate and calcitriol, the biochemical parameters normalized and bone densitometry improved significantly in less than a year. Patient No 2 her grand daughter consulted at 1 year and 8 months of age for growth retardation (height at percentile 3) and genu varum. Laboratory assays showed low serum phosphate and high total alkaline phosphatase; thickening and irregular epiphyseal borders of the wrists were observed radiologically. She began treatment with calcitriol and phosphorus with normalization of laboratory parameters and increase in growth (height increasing to percentile 50 after 20 months of therapy). Patient No 3: mother of patient No 2, she had no clinical manifestations and normal densitometry but presented low serum phosphate (1.9 mg/dl) that normalized with neutral phosphate therapy. Patient No 4: he was the youngest son of Patient No 1, who had had hypophosphatemic rickets, by age 5; his serum phosphate normalized without treatment At age 29, he presented normal serum phosphate and bone densitometry. Genomic DNA analysis performed in patient No 3, showed missense mutation with substitution of arginine at position 179 for glutamine. The family was catalogued as having autosomal dominant hypophosphatemic rickets/osteomalacia.

Distintas formas de presentación clínica de un raquitismo hipofosfatémico autosómico dominante por mutación del factor de crecimiento fibroblástico 23 en una familia. / [Different forms of clinical presentation of an autosomal dominant hypophosphatemic rickets caused by a FGF23 mutation in one family]

In this report we describe different forms of clinical presentation of an autosomal dominant hypophosphatemic rickets (ADHR) in 4 members of the same family as well as the treatment used in these patients and their response to it. Patient No 1: a 60 year old female who consulted for bone pain: Bone densitometry showed osteoporosis. Laboratory assays showed hypophosphatemia with low renal phosphate threshold, high total alkaline phosphatase, normal intact PTH and normal serum calcium. With neutral phosphate and calcitriol, the biochemical parameters normalized and bone densitometry improved significantly in less than a year. Patient No 2 her grand daughter consulted at 1 year and 8 months of age for growth retardation (height at percentile 3) and genu varum. Laboratory assays showed low serum phosphate and high total alkaline phosphatase; thickening and irregular epiphyseal borders of the wrists were observed radiologically. She began treatment with calcitriol and phosphorus with normalization of laboratory parameters and increase in growth (height increasing to percentile 50 after 20 months of therapy). Patient No 3: mother of patient No 2, she had no clinical manifestations and normal densitometry but presented low serum phosphate (1.9 mg/dl) that normalized with neutral phosphate therapy. Patient No 4: he was the youngest son of Patient No 1, who had had hypophosphatemic rickets, by age 5; his serum phosphate normalized without treatment At age 29, he presented normal serum phosphate and bone densitometry. Genomic DNA analysis performed in patient No 3, showed missense mutation with substitution of arginine at position 179 for glutamine. The family was catalogued as having autosomal dominant hypophosphatemic rickets/osteomalacia.

Importancia de las fositas del labio inferior en niños con fisura labio-palatina / The importance of lower lip pits in children with cleft lip andlor palate

Las fositas del labio inferior asociadas a fisura de labio y/o paladar definen clOsicamente al síndrome de Van der Woude (SVW) de herencia autosómica dominante. El SVW es la primera o segunda forma sindrómica más frecuente de fisura de labio y/o paladar pero es subdiagnosticado debido , probablemente , a su amplia variabilidad de expresión clínica. Su detección es importante para el riesgo de recurrencia de fisura en la familia, que es significativamente superior al de la fisura aislada. Comunicamos una familia con tres miembros afectados como ejemplo de la expresión variable del SVW. El pediatra puede diagnosticar el sindrome solamente con el examen fþisico del niño y su familia.(AU)

Importancia de las fositas del labio inferior en niños con fisura labio-palatina / The importance of lower lip pits in children with cleft lip andlor palate

Las fositas del labio inferior asociadas a fisura de labio y/o paladar definen clàsicamente al síndrome de Van der Woude (SVW) de herencia autosómica dominante. El SVW es la primera o segunda forma sindrómica más frecuente de fisura de labio y/o paladar pero es subdiagnosticado debido , probablemente , a su amplia variabilidad de expresión clínica. Su detección es importante para el riesgo de recurrencia de fisura en la familia, que es significativamente superior al de la fisura aislada. Comunicamos una familia con tres miembros afectados como ejemplo de la expresión variable del SVW. El pediatra puede diagnosticar el sindrome solamente con el examen fçisico del niño y su familia.