BACKGROUND: @entity261 in @entity1 is a heterogeneous group with diverse genetic etiologies. To aid clinicians in the investigation and management of @entity1 with @entity261 , we describe the phenotype of a 6-year-old @entity1 with @entity261 and short stature diagnosed with @entity68300 ( @entity68300 ) Type 2 and the subsequent response to @entity2124 ( @entity2124 ) treatment. CASE PRESENTATION: The proband presented in the neonatal period with hypocalcemic @entity410 secondary to @entity261 . Her phenotype included small hands and feet, @entity2150 and @entity7064 , @entity2150 mid-face and @entity12377 . Postnatal growth was delayed but neurodevelopment was normal. A skeletal survey at 2  years of age was suggestive of @entity68300 Type 2 and genetic testing revealed a novel de novo heterozygous mutation @entity68890 ( @entity68891 ) in @entity68892 . At 3  years and 2  months, her height was 80cms ( @entity214 -3.86). She had normal overnight @entity2124 levels. @entity2124 therapy was commenced at a dose of 4.9  mg/m(2)/week for her short stature and low height velocity of 5cms/year. At the end of the first and second years of @entity2124 treatment, height velocity was 6.5cms/year and 7.2cms/year, respectively with maximal dose of 7.24  mg/m(2)/week. CONCLUSION: This case highlights the phenotype and the limited response to @entity2124 in a @entity1 with genetically proven @entity68300 type 2. Long-term registries monitoring growth outcomes following @entity2124 therapy in @entity1 with rare genetic conditions may help guide clinical decisions regarding the use and doses of @entity2124 in these conditions.

Short stature and @entity261 in a @entity1 with XXXX due to a novel mutation in @entity68892 gene.

@entity1 :: ('9606', 'Species') :: ['children', 'patients', 'child'] @entity410 :: ('MESH:D012640', 'Disease') :: ['seizures'] @entity68892 :: ('63901', 'Gene') :: ['FAM111A'] @entity12377 :: ('MESH:C535812', 'Disease') :: ['macrocrania'] @entity68891 :: ('p|SUB|S|541|Y', 'ProteinMutation') :: ['p.Ser541Tyr'] @entity68890 :: ('c|SUB|C|1622|A', 'DNAMutation') :: ['c.1622C   >   A'] @entity2150 :: ('MESH:D000741', 'Disease') :: ['hypoplastic'] @entity68300 :: ('MESH:C537020', 'Disease') :: ['KCS', 'Kenny-Caffey syndrome'] @entity261 :: ('MESH:D007011', 'Disease') :: ['Hypoparathyroidism', 'hypoparathyroidism'] @entity2124 :: ('2688', 'Gene') :: ['GH', 'growth hormone'] @entity7064 :: ('MESH:C536378', 'Disease') :: ['dystrophic nails'] @entity214 :: ('CHEBI:8984', 'Chemical') :: ['SDS']
@entity68300 :: (MESH:C537020,Disease) :: ['Kenny-Caffey syndrome type 2']
