A family of Melnick-Needles syndrome: a case report

Oh, Chi Hoon; Lee, Chang Ho; Kim, So Young; Lee, So‐Young; Jun, Hey Jung; Lee, Soonchul

doi:10.1186/s12887-020-02288-2

Cited by 4 publications

(2 citation statements)

References 24 publications

(28 reference statements)

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“…The close differential is child abuse, however symmetrical involvement of clavicle and ribs is seen in Caffey's disease. 15 Other diseases having abnormal shapes of ribs include neurofibromatosis 1 (twisted ribbon ribs) 16 and Melnick-Needles syndrome (wavy ribs with diaphyseal constrictions and curvature in long bones), 17 among others (►Fig. 13).…”

Section: Normal Bone Density Abnormality In the Ribsmentioning

confidence: 99%

Chest X-Ray as the First Pointer in Various Skeletal Dysplasia and Related Disorders

Jain,

Naranje,

Gupta

et al. 2022

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Chest X-ray (CXR) is the most commonly used imaging modality. It is commonly used for respiratory or cardiac ailments; however, it is also used routinely as a part of skeletal surveys. In the case of suspected skeletal dysplasia, the viewer is alerted regarding the presence of some skeletal abnormality. But in case of a routine CXR performed for some other reason, it is not uncommon to miss subtle pointers of skeletal dysplasia. Sometimes routine CXR is the first pointer to alert a radiologist toward some generalized skeletal anomaly and therefore, initiate its proper evaluation by the skeletal survey.

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Section: Normal Bone Density Abnormality In the Ribsmentioning

confidence: 99%

Chest X-Ray as the First Pointer in Various Skeletal Dysplasia and Related Disorders

Jain,

Naranje,

Gupta

et al. 2022

Indographics

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“…Coste et al in 1968 proposed the term "Osteodysplasty" in a 58-year-old woman affected with a striking face including frog-shaped eyes, full red cheeks, a prominent forehead, and a fleeing chin. Melnick-Needles syndrome is the cause of complex congenital malformations, mainly of interest to members, the cranio-facial region and the thoraco-abdominal axis [4] [5]. It seems to affect more women than men with a sex ratio of 7.…”

Section: Introductionmentioning

confidence: 99%

Melnick Needles Syndrome: Computed Imaging and Management Difficulties

Zanga,

Bicaba,

Nagalo

et al. 2023

OJRad

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Melnick-Needles syndrome is an osteo-dysplasia caused by a mutation of a gene, FLNA, coding for filamine A. It is at the origin of a set of complex congenital malformations, mainly of interest to the members, but also to the cranio-facial region. Melnick-Needles syndrome was first described in 1966 by two Americans John Melnick, a radiologist, and Carl F Needles, a pediatrician. They described cases of families of several generations who had a characteristic severe congenital bone disorder. They thought that human-to-human transmission had occurred in one case. We report a case of Melnick-Needles syndrome which is a pathology with very high mortality especially in a male subject. This was an observational study of a case received in consultation with the pediatric service of the Souro Sanou University Hospital Center in Bobo Dioulasso in Burkina Faso. It was a 3-year-old boy born in a low-term pregnancy without any prenatal consultation, imaging test and prenatal biology performed. The exact pathogenesis of this condition is not established but is linked to a mutation of the Filamine A gene linked to sexual chromosomes X. Pathology is rare, around a hundred cases have been reported worldwide. Its incidence, according to the literature is around 1/100,000. The sex ratio is at 7. The malformations of this acquired embryo-fetopathy are multiple, polymorphic and asymmetrical. The diagnosis of this pathology is suspected by the clinic and established by molecular biology by sequencing the genes responsible for the mutation. However, imagery, in particular the scanner has a major role by its protocol with multi-planar reconstructions and its analysis in double windowing which allow a better description of the malformations of this syndrome. Its management is complex, and multidisciplinary, and the unfortunate prognosis in our context is because of the precarious technical platform.

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Mutation of FLNA attenuating the migration of abdominal muscles contributed to Melnick–Needles syndrome (MNS) in a family with recurrent miscarriage

Luo

Yang

Zeng

et al. 2023

Molec Gen & Gen Med

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Background Filamin A, encoded by the X‐linked gene FLNA, links the cell membrane with the cytoskeleton and acts as a regulator of the actin cytoskeleton. Mutations in FLNA cause a large spectrum of congenital malformations during embryonic development, including Melnick–Needles syndrome (MNS). However, reports of MNS, especially in males, are rare, and the pathogenesis molecular mechanisms are not well understood. Methods We found a family with two consecutive miscarriages of similar fetuses with multiple malformations. DNA was extracted from peripheral blood and tissues, and whole exome sequencing was performed for genetic analysis. Then, we created a C57BL/6 mouse with a point mutation by CRISPR/Cas‐mediated genome engineering. The migration of primary abdominal muscle cell was detected by wound healing assay. Results The first fetus showed congenital hygroma colli and omphalocele identified by ultrasound at 12 wks; the second fetus showed hygroma colli and thoraco abdominoschisis at 12 wks, with a new hemizygous mutation c.4420G>A in exon 26 of the FLNA gene, which is predicted to cause an amino acid substitution (p.Asp1474Asn). The mother and grandmother were both present in the c.4420G>A heterozygous state, and the mother's healthy brother had wild‐type FLNA. These FLNA‐mutated mice exhibited a broader central gap between the rectus abdominis than the wild type (WT), similar to the midline structure dysplasia of the abdominal wall in the two fetuses. Wound healing assays showed the attenuated migration capacity of abdominal muscle cells in mice with mutated FLNA. Finally, we summarized the cases of MNS with FLNA mutation from the accessible published literature thus far. Conclusion Our research revealed a mutation site of the FLNA for MNS and explored the mechanism of midline structure dysplasia in the abdominal wall of male patients, which could provide more evidence for the clinical diagnosis and genetic counseling of families with these disorders.

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A family of Melnick-Needles syndrome: a case report

Cited by 4 publications

References 24 publications

Chest X-Ray as the First Pointer in Various Skeletal Dysplasia and Related Disorders

Chest X-Ray as the First Pointer in Various Skeletal Dysplasia and Related Disorders

Melnick Needles Syndrome: Computed Imaging and Management Difficulties

Mutation of FLNA attenuating the migration of abdominal muscles contributed to Melnick–Needles syndrome (MNS) in a family with recurrent miscarriage

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