Diaphanospondylodysostosis: Full Case Report with Novel Pathogenic BMPER Mutation

2021 ◽  
pp. 109352662110568
Author(s):  
Arredondo Montero Javier ◽  
Bronte Anaut Mónica ◽  
Ruiz de Azúa Yerani ◽  
Morales Garofalo Lourdes
Keyword(s):  
Case Report ◽  
Periventricular Leukomalacia ◽  
Gene Mutations ◽  
Pathologic Finding ◽  
Short Neck ◽  
Nasal Bridge ◽  
Depressed Nasal Bridge ◽  
Skeletal Disorder ◽  
Nephrogenic Rests ◽  
Germinal Mutation

Diaphanospondylodysostosis is an extremely rare, recessively inherited, perinatal lethal skeletal disorder associated with BMPER gene mutations. Clinically it is characterized by defects in costovertebral ossification, absent ribs, hypertelorism, short nose with depressed nasal bridge, low-set ears, and short neck. At the extraosseous level, the most frequent pathologic finding is nephroblastomatosis with multicystic kidneys. We present the case of a child of non-consanguineous parents who died at 2 months of age in our center. Autopsy showed a marked costovertebral ossification defect, perilobar nephrogenic rests and loss of white matter with periventricular leukomalacia. After genetic study, the diagnosis of diaphanospondylodysostosis was confirmed. A previously undescribed germinal mutation in the BMPER gene (c.576 + 2dupT) was found.

scholarly journals GM1 gangliosidosis: Case report

2010 ◽  
Vol 63 (5-6) ◽  
pp. 427-430
Author(s):  
Slobodan Obradovic ◽  
Olivera Laban ◽  
Zoran Igrutinovic ◽  
Biljana Vuletic ◽  
Ana Vujic ◽  
...  
Keyword(s):  
Case Report ◽  
Clinical Manifestations ◽  
Lysosomal Storage Disorders ◽  
Facial Features ◽  
Lysosomal Storage ◽  
Nasal Bridge ◽  
Gm1 Gangliosidosis ◽  
Decerebrate Rigidity ◽  
Depressed Nasal Bridge ◽  
Storage Disorders

Introduction. Gangliosidoses occur due to inhereted deficiency of human ? - galaktosidase,resulting in the accumulation of glicophyngolipides within the lisosomes. Clinical manifestations of lysosomal storage disorders are remarkably heterogeneous, they can appear at any age and each of them can vary from mild to severe conditions. Case report. We present a patient with an early, infintile type of GM1 gangliosidosis. The facial features were coarse: hypertelorismus, wide nose, depressed nasal bridge with lingual protrusion. From the very first months of life she had severe generalized hypotonic, delayed development and hapatosplenomegaly. Before she died, when she was 13 months old, she had not had any spontaneus movements, she was deaf and blind, dispnoic, with apnoiccrises, with amimic face, but without seizures and decerebrate rigidity, which often accompanies the terminal stage of this illness. Conclusion. The absence of ?-galaktosidase enzyme activaty at the skin fibroblasts confirmed the definitive diagnosis. There has been no successful treatment so far, but increasingly better results of the gene therapy for other lysosomal storage disorders can make us optimistic.

Palatoplasty for the Patient With Campomelic Dysplasia—Report of a Case and Review of the Literature

2021 ◽  
pp. 105566562199265
Author(s):  
Kaya Narimatsu ◽  
Akihiko Iida ◽  
Takanori Kobayashi
Keyword(s):  
Respiratory Distress ◽  
Gene Mutations ◽  
Optimal Timing ◽  
Review Of The Literature ◽  
Campomelic Dysplasia ◽  
Nasal Bridge ◽  
Flat Nasal Bridge ◽  
Surgical Methods ◽  
Skeletal Disorder ◽  
Respiratory Conditions

Campomelic dysplasia (CMPD) is a skeletal disorder resulting from SOX9 gene mutations. Palatoplasty is rare due to a high lethality rate in infants from respiratory distress. Our patient had characteristic symptoms of CMPD, including short bowed limbs, macrocephaly, low-set ears, short palpebral fissures, hypertelorism, a flat nasal bridge, a long philtrum, micrognathia, and a cleft palate. We performed a Furlow palatoplasty when the patient was 2 years 9 months of age, after respiratory conditions had stabilized. We reviewed the literature of CMPD cases that underwent palatoplasty and discussed the optimal timing and surgical methods.

Klippel–Feil syndrome and levo-looped transposition of the great arteries

2014 ◽  
Vol 25 (3) ◽  
pp. 591-593 ◽  
Author(s):  
Efrén Martínez-Quintana ◽  
Fayna Rodríguez-González
Keyword(s):  
Congenital Heart ◽  
Cervical Vertebrae ◽  
Coarctation Of The Aorta ◽  
Syndrome Type ◽  
Short Neck ◽  
Cardiac Defects ◽  
Lung Lobe ◽  
Lung Agenesis ◽  
Skeletal Disorder ◽  
Anomalous Pulmonary Venous Connection

AbstractKlippel–Feil syndrome is a skeletal disorder characterised by low hairline and a short neck due to abnormal fusion of two or more cervical vertebrae. Although congenital heart and lung defects are infrequent, some abnormalities such as cor triatriatum, coarctation of the aorta, total anomalous pulmonary venous connection, or lung agenesis have been reported. The challenge of recognising Klippel–Feil syndrome lies in the fact that there is an association of this syndrome with other significant conditions such as skeletal, genitourinary, neurological, ear, and some cardiac defects. We report a Klippel–Feil syndrome type III 14-year-old patient with a levo-looped transposition of the great arteries. In addition, the patient had agenesis of the left upper-lung lobe.

An Unusual Ocular Finding Associated With Chromosome lq Deletion Syndrome

PEDIATRICS ◽  
1986 ◽  
Vol 77 (5) ◽  
pp. 786-786
Author(s):  
LINDA L. WRIGHT ◽  
MARCIA F. SCHWARTZ ◽  
STUART SCHWARTZ ◽  
JAMES KARESH
Keyword(s):  
Family History ◽  
Congenital Anomalies ◽  
Deletion Syndrome ◽  
Black Girl ◽  
Nasal Bridge ◽  
Drug Ingestion ◽  
Depressed Nasal Bridge ◽  
Fetal Wastage ◽  
History Of ◽  
Ocular Finding

To the Editor.— We report an unusual ocular finding associated with the chromosome lq deletion syndrome in a full-term black girl for whom there was no family history of congenital anomalies, fetal wastage, consanguinity, or drug ingestion. The infant was overtly microcephalic (third percentile) with a sloping forehead, metopic sutures open to the brow, and a large posterior fontanel. She had a low anterior hair line, depressed nasal bridge, bulbous nose, thin down-turned lips, prominent philtrum, malformed ears, and a webbed neck.

Novel germinal mutation in NF1: case report

2021 ◽  
Author(s):  
Javier Arredondo Montero ◽  
Santiago López Arbues ◽  
Mónica Bronte Anaut ◽  
Lourdes Morales Garofalo ◽  
Fermín García
Keyword(s):  
Case Report ◽  
Germinal Mutation

scholarly journals Premature Infant With Severe Periventricular Leukomalacia Associated With a Large Placental Chorioangioma: A Case Report

2002 ◽  
Vol 22 (3) ◽  
pp. 252-254 ◽  
Author(s):  
Akira Harigaya ◽  
Yasushi Nako ◽  
Akihiro Morikawa ◽  
Hiroya Okano ◽  
Takeshi Takagi
Keyword(s):  
Case Report ◽  
Premature Infant ◽  
Periventricular Leukomalacia

Hereditary Paraganglioma Syndrome Associated with SDHD Gene Mutations: A Patient with Multicentric Presentation Treated with Radiotherapy. Case Report

2011 ◽  
Vol 97 (2) ◽  
pp. 214-220 ◽  
Author(s):  
Elisabetta Garibaldi ◽  
Sara Bresciani ◽  
Rocco Panaia ◽  
Elena Delmastro ◽  
Giuseppe Malinverni ◽  
...  
Keyword(s):  
Case Report ◽  
Gene Mutations ◽  
Sdhd Gene ◽  
Paraganglioma Syndrome

PROGRESSIVE FAMILY INTRAHEPATIC CHOLESTASIS: DIAGNOSTICS, TREATMENT (CLINICAL OBSERVATION)

2021 ◽  
Vol 19 (4) ◽  
pp. 462-467
Author(s):  
A. R. Obuhovich ◽  
◽  
N. N. Iaskevich ◽  
Keyword(s):  
Case Report ◽  
Intrahepatic Cholestasis ◽  
Clinical Observation ◽  
Gene Mutations ◽  
Literature Analysis ◽  
Genetic Progress ◽  
Benign Recurrent Intrahepatic Cholestasis

Jaundice is a manifestation of many diseases both benign and malignant. Genetic progress allowed to distinguish the group of unknown earlier rare cholestatic jaundices, which are resulted from gene mutations. There are no described algorithms of their diagnosis or treatment. In this article case report of the patient with benign recurrent intrahepatic cholestasis type 1 is presented. There is also literature analysis of this theme.

Familial Partial Trisomy of the Long Arm of Chromosome 10 (q24-26)

PEDIATRICS ◽  
1975 ◽  
Vol 56 (5) ◽  
pp. 756-761
Author(s):  
Humberto Moreno-Fuenmayor ◽  
Elaine H. Zackai ◽  
William J. Mellman ◽  
Margaret Aronson
Keyword(s):  
Congenital Heart Disease ◽  
Heart Disease ◽  
Congenital Heart ◽  
Partial Trisomy ◽  
Unbalanced Translocation ◽  
Upper Lip ◽  
Partial Monosomy ◽  
Nasal Bridge ◽  
Depressed Nasal Bridge ◽  
Hands And Feet

Two fourth cousins with a strikingly similar pattern of malformation and who have an unbalanced translocation (46, XY, —17, +t (17p; lOq) are described. From an analysis of the phenotypes of these patients and others reported with lOq trisomy, we propose that the trisomy 1Oq 24-26 syndrome includes: growth and mental retardation, a characteristic facies (microcephaly, flat face with spacious forehead, small nose, depressed nasal bridge, arched wide-spaced eyebrows, blepharophimosis, microphthamia, low-set ears, bow-shaped mouth with prominent upper lip, micrognathia), palate anomalies (high-arched cleft or agenesis), congenital heart disease, and anomalies of the hands and feet. Anomalies common to the cousins, but not described in other patients with trisomy 1Oq, are believed to be expressions of a partial monosomy of 17p.

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