Melnick-Needles syndrome

Melnick-Needles syndrome (MNS) belongs to the otopalatodigital syndrome spectrum disorder and is associated with a short stature, facial dysmorphism, osseous abnormalities involving the majority of the axial and appendicular skeleton resulting in impaired speech and masticatory problems.

Serpentine fibula

Elongated curved (S-shaped) fibulae.


合計: 4

                       


（表示件数）
PMID (PMCID)
17159511
 MIXED_SAMPLE Child
Phenotypic overlap in Melnick-Needles, serpentine fibula-polycystic kidney and Hajdu-Cheney syndromes: a clinical and molecular study in three patients.
Albano LM, Bertola DR, Barba MF, Valente M, Robertson SP, Kim CA.
Clin Dysmorphol. 2007;16(1):27-33.
One of these conditions, the Melnick-Needles syndrome exhibits a phenotype that shares overlap with that of serpentine fibula-polycystic kidney syndrome and the autosomal dominant condition, Hajdu-Cheney syndrome.
17159511
 MIXED_SAMPLE Child
Phenotypic overlap in Melnick-Needles, serpentine fibula-polycystic kidney and Hajdu-Cheney syndromes: a clinical and molecular study in three patients.
Albano LM, Bertola DR, Barba MF, Valente M, Robertson SP, Kim CA.
Clin Dysmorphol. 2007;16(1):27-33.
We found a mutation in FLNA in the individual with Melnick-Needles syndrome, but no pathogenic variants in any filamin gene in the two individuals with Hajdu-Cheney syndrome and serpentine fibula-polycystic kidney syndrome.
17159511
 MIXED_SAMPLE Child
Phenotypic overlap in Melnick-Needles, serpentine fibula-polycystic kidney and Hajdu-Cheney syndromes: a clinical and molecular study in three patients.
Albano LM, Bertola DR, Barba MF, Valente M, Robertson SP, Kim CA.
Clin Dysmorphol. 2007;16(1):27-33.
Clinical and molecular evidence indicates that Melnick-Needles syndrome is aetiologically distinct from Hajdu-Cheney syndrome and serpentine fibula-polycystic kidney syndrome, but these two latter conditions share many clinical similarities and may prove to be allelic to one another.
8276023
 FEMALE Child
Serpentine fibula--polycystic kidney syndrome and Melnick-Needles syndrome are different disorders.
Majewski F, Enders H, Ranke MB, Voit T.
Eur J Pediatr. 1993;152(11):916-21.
Serpentine fibula--polycystic kidney syndrome and Melnick-Needles syndrome are different disorders.