Challenges of Rehabilitation Interventions in Beaulieu-boycott-innes Syndrome: A Case Report

Beaulieu-Boycott-Innes syndrome (BBIS), an autosomal recessive disorder, is characterized by dysmorphic facial features and developmental delay. In this case study, we used the age and stages questionnaire 2 (ASQ-2) to assess the developmental status of an Iranian 20-month-old girl displaying a complex BBIS phenotype. Rehabilitation interventions were designed and performed focusing on neurodevelopmental delay. Because she had a severe developmental delay and her scores in all five domains of ASQ-2 were below the cut-off points available for Iranian children, the effectiveness of rehabilitation interventions was slower than expected. It seems that early rehabilitation and close follow-up should be considered for these children. We can assume that early and properly sensory-motor and cognitive interventions in these children may lead to growth development and prevent secondary complications.

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Sanjad-Sakati Syndrome and Its Association with Superior Mesenteric Artery Syndrome

Case Reports in Pediatrics ◽

10.1155/2014/108051 ◽

2014 ◽

Vol 2014 ◽

pp. 1-3 ◽

Cited By ~ 1

Author(s):

Osamah Abdullah AlAyed

Keyword(s):

Superior Mesenteric Artery ◽

Mesenteric Artery ◽

Autosomal Recessive ◽

Autosomal Recessive Disorder ◽

Superior Mesenteric Artery Syndrome ◽

Facial Features ◽

Kingdom Of Saudi Arabia ◽

Low Iq ◽

Severe Growth

Sanjad-Sakati syndrome (SSS) is an autosomal recessive disorder found exclusively in people of Arabian origin. It was first reported in the Kingdom of Saudi Arabia in 1988 and confirmed by a definitive report in 1991. The syndrome comprises of congenital hypoparathyroidism, seizures, severe growth and developmental retardation, low IQ, and atypical facial features. Supportive treatment in the form of vitamin D and growth hormone supplementation is often offered to patients suffering from SSS. This case study focuses on the steps taken to help a patient who was found to have very unusual symptoms and was later found to have superior mesenteric artery syndrome.

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Case report: two novel VPS13B mutations in a Chinese family with Cohen syndrome and hyperlinear palms

BMC Medical Genetics ◽

10.1186/s12881-019-0920-x ◽

2019 ◽

Vol 20 (1) ◽

Cited By ~ 3

Author(s):

Sha Zhao ◽

Zhenqing Luo ◽

Zhenghui Xiao ◽

Liping Li ◽

Rui Zhao ◽

...

Keyword(s):

Developmental Delay ◽

Chinese Population ◽

Autosomal Recessive ◽

Autosomal Recessive Disorder ◽

Chinese Family ◽

Compound Heterozygous ◽

Case Presentation ◽

Cohen Syndrome ◽

The Family ◽

Sporadic Cases

Abstract Background Cohen syndrome (CS) is an uncommon developmental disease with evident clinical heterogeneity. VPS13B is the only gene responsible for CS. Only few sporadic cases of CS have been reported in China. Case presentation A Chinese family with two offspring–patients affected by developmental delay and intellectual disability was investigated in this study. Exome sequencing was performed, and compound heterozygous mutations in VPS13B were segregated for family members with autosomal recessive disorder. Splicing mutation c.3666 + 1G > T (exon 24) and nonsense mutation c. 9844 A > T:p.K3282X (exon 54) were novel. We revisited the family and learned that both patients are affected by microcephaly, developmental delay, neutropenia, and myopia and have a friendly disposition, all of which are consistent with CS phenotypes. We also found that both patients have hyperlinear palms, which their parents do not have. VPS13B mutations reported among the Chinese population were reviewed accordingly. Conclusions This study presents two novel VPS13B mutations in CS. The identification of hyperlinear palms in a family affected by CS expands the phenotype spectrum of CS.

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DEVELOPMENTAL DELAY IN CHILDHOOD CATARACT: A CAVEAT MARINESCO-SJÖGREN SYNDROME

Journal of Health and Allied Sciences NU ◽

10.1055/s-0040-1703818 ◽

2014 ◽

Vol 04 (03) ◽

pp. 121-123

Author(s):

Rathika D. Shenoy ◽

Deepthi R. V. ◽

Nutan Kamath ◽

Sumana J. Kamath

Keyword(s):

Developmental Delay ◽

Early Onset ◽

Autosomal Recessive ◽

Autosomal Recessive Disorder ◽

Sjögren Syndrome ◽

Sjogren Syndrome ◽

Cerebellar Hypoplasia ◽

Psychomotor Delay ◽

Neuro Imaging ◽

Childhood Cataract

AbstractWe report on a child with Marinesco-Sjögren Syndrome, a rare autosomal recessive disorder characterised by early onset cataract, psychomotor delay, cerebellar hypoplasia and myopathy. The presentation, neuro-imaging and muscle biopsy features are discussed.

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Longitudinal Follow-up of Malignant Osteopetrosis by Skeletal Radiographs and Restriction Fragment Length Polymorphism Analysis After Bone Marrow Transplantation

PEDIATRICS ◽

10.1542/peds.90.6.986 ◽

1992 ◽

Vol 90 (6) ◽

pp. 986-989

Author(s):

ROBERT E. SCHROEDER ◽

F. LEONARD JOHNSON ◽

MICHAEL J. SILBERSTEIN ◽

WILMA L. NEUMAN ◽

JEANNE M. HOAG ◽

...

Keyword(s):

Autosomal Recessive ◽

Fragment Length Polymorphism ◽

Autosomal Recessive Disorder ◽

Polymorphism Analysis ◽

Newborn Period ◽

Normal Bone ◽

Malignant Osteopetrosis ◽

Osteoclast Function ◽

Infantile Malignant Osteopetrosis

Infantile malignant osteopetrosis is a rare autosomal recessive disorder characterized by presentation in the first months of life with manifestations related to an underlying defect in osteoclast function. Abnormal osteoclast activity paired with normal bone formation by osteoblasts leads to development of densely sclerotic fragile bones. Encroachment on the marrow cavities by hyperostotic bone results in profound anemia and thrombocytopenia, with extramedullary ullary hematopoiesis and hypersplenism. Deficits in immune function can lead to presentation with overwhelming sepsis in the newborn period. Narrowing of the optic and auditory foramina can lead to progressive blindness and hearing loss. Until recently, the prognosis for this disorder had been uniformly dismal with death usually occurring within a few months.l-3

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Fryns Syndrome: An Autosomal Recessive Disorder Associated With Craniofacial Anomalies, Diaphragmatic Hernia, and Distal Digital Hypoplasia

PEDIATRICS ◽

10.1542/peds.85.4.499 ◽

1990 ◽

Vol 85 (4) ◽

pp. 499-504

Author(s):

Christopher Cunniff ◽

Kenneth Lyons Jones ◽

Howard M. Saal ◽

Harvey J. Stern

Keyword(s):

Diaphragmatic Hernia ◽

Autosomal Recessive ◽

Autosomal Recessive Disorder ◽

Facial Features ◽

Craniofacial Anomalies ◽

Term Survival ◽

Variable Expression ◽

Central Nervous Systems ◽

Genetically Determined

Fryns syndrome is an autosomal recessive, genetically determined condition with variable expression, which includes abnormal facial features, diaphragmatic hernia, distal limb abnormalities, and malformations of the cardiovascular, gastrointestinal, genitourinary, and central nervous systems. Five cases of children with Fryns syndrome, including an example of familial recurrence and a case of long-term survival, are described. This report brings to 25 the number of cases reported in the literature and further serves to illustrate the clinical variability of this disorder.

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Primary systemic carnitine deficiency: a Turkish case with a novel homozygous SLC22A5 mutation and 14 years follow-up

Journal of Pediatric Endocrinology and Metabolism ◽

10.1515/jpem-2014-0528 ◽

2015 ◽

Vol 28 (9-10) ◽

Cited By ~ 2

Author(s):

Berna Seker Yilmaz ◽

Deniz Kor ◽

Neslihan Onenli Mungan ◽

Sevcan Erdem ◽

Serdar Ceylaner

Keyword(s):

Autosomal Recessive ◽

Autosomal Recessive Disorder ◽

Carnitine Deficiency ◽

Carnitine Transporter ◽

Hypoglycemic Encephalopathy ◽

Primary Carnitine Deficiency ◽

Turkish Case ◽

Systemic Carnitine Deficiency

AbstractSystemic primary carnitine deficiency is an autosomal recessive disorder caused by the deficiency of carnitine transporter. Main features are cardiomyopathy, myopathy and hypoglycemic encephalopathy. We report a Turkish case with a novel

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A Rare Cause of Refractory Severe Polyhydramnios: Antenatal Bartter Syndrome

Medicina ◽

10.3390/medicina57030272 ◽

2021 ◽

Vol 57 (3) ◽

pp. 272

Author(s):

Gina Nam ◽

Angela Cho ◽

Mi-hye Park

Keyword(s):

Pregnant Woman ◽

Prenatal Diagnosis ◽

Preterm Labor ◽

Autosomal Recessive ◽

Genetic Diagnosis ◽

Autosomal Recessive Disorder ◽

Bartter Syndrome ◽

Case Presentation ◽

Good Clinical Condition

Background: Antenatal Bartter syndrome is an autosomal recessive disorder causing severe polyuria that leads to severe polyhydramnios and preterm labor. Prenatal diagnosis of antenatal Bartter syndrome is difficult because the genetic diagnosis can only be confirmed following a clinical diagnosis in infants. Reports of prenatal diagnosis and treatment of antenatal Bartter syndrome are limited. Case Presentation: We present the case of a 33-year-old pregnant woman with refractory polyhydramnios at 31 weeks of gestation. There were no structural anomalies or placental problems on ultrasonography; therefore, antenatal Bartter syndrome was suspected. With repeated amniocentesis and indomethacin therapy, the pregnancy continued to 36 weeks of gestation. The clinical features of the infant and subsequent genetic testing confirmed the diagnosis of antenatal Bartter syndrome. The baby was in good clinical condition at the 3-month follow-up visit. Conclusions: For pregnant women with early onset and refractory severe polyhydramnios without morphological anomalies, antenatal Bartter syndrome should be highly suspected.

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A Novel Mutation in the VPS13B Gene in a Cohen Syndrome Patient with Positive Antiphospholipid Antibodies

Case Reports in Immunology ◽

10.1155/2021/3143609 ◽

2021 ◽

Vol 2021 ◽

pp. 1-3

Author(s):

Roghayeh Dehghan ◽

Mahdiyeh Behnam ◽

Alireza Moafi ◽

Mansoor Salehi

Keyword(s):

Antiphospholipid Antibodies ◽

Autosomal Recessive ◽

Novel Mutation ◽

Mental Deficiency ◽

Autosomal Recessive Disorder ◽

Facial Features ◽

Loss Of Function ◽

Cohen Syndrome ◽

Mild Anemia ◽

Homozygous Nonsense Mutation

Cohen syndrome is an autosomal recessive disorder with the primary symptoms of mental deficiency, progressive retinopathy, hypotonia, microcephaly, obesity of midchildhood onset, intermittent neutropenia, and dysmorphic facial features. The syndrome has high phenotypic heterogeneity and is caused by loss-of-function mutations in the VPS13B gene. Here, we introduce a novel homozygous nonsense mutation (c.8698G > T, p.E2900X) in the VPS13B gene in an 11-year-old Iranian boy with major symptoms of Cohen syndrome. He also had mild anemia accompanied by positive antiphospholipid antibodies, the latter has never been previously reported in Cohen syndrome.

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Immunodeficiency Due to a Unique Protracted Developmental Delay in the B-Cell Lineage

Clinical and Diagnostic Laboratory Immunology ◽

10.1128/cdli.6.2.161-167.1999 ◽

1999 ◽

Vol 6 (2) ◽

pp. 161-167

Author(s):

Armond S. Goldman ◽

Stephen E. Miles ◽

Helen E. Rudloff ◽

Kimberly H. Palkowetz ◽

Frank C. Schmalstieg

Keyword(s):

B Cells ◽

B Cell ◽

Developmental Delay ◽

Autosomal Recessive ◽

Genetic Defect ◽

Cell Lineage ◽

Autosomal Recessive Disorder ◽

Immunoglobulin M ◽

X Chromosomes ◽

Specific Igg

ABSTRACT A unique immune deficiency in a 24-month-old male characterized by a transient but protracted developmental delay in the B-cell lineage is reported. Significant deficiencies in the number of B cells in the blood, the concentrations of immunoglobulins in the serum, and the titers of antibodies to T-dependent and T-independent antigens resolved spontaneously by the age of 39 months in a sequence that duplicated the normal development of the B-cell lineage: blood B cells followed by immunoglobulin M (IgM), IgG, IgA, and specific IgG antibodies to T-independent antigens (pneumococcal polysaccharides). Because of the sequence of recovery, the disorder could have been confused with other defects in humoral immunity, depending on when in the course of disease immunologic studies were conducted. Investigations of X-chromosome polymorphisms suggested that the disorder was not X linked in that the mother appeared to have identical X chromosomes. An autosomal recessive disorder involving a gene that controls B-cell development and maturation seems more likely. In summary, this case appears to be a novel protracted delay in the development of the B-cell lineage, possibly due to an autosomal recessive genetic defect.

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A case report of seckel syndrome

RGUHS Journal of Dental Sciences ◽

10.26715/rjds.10_2_7 ◽

2018 ◽

Vol 10 (2) ◽

pp. 39-42

Author(s):

Chaitanya R Uppin

Keyword(s):

Mental Retardation ◽

Case Report ◽

Birth Weight ◽

Autosomal Recessive ◽

Autosomal Recessive Disorder ◽

Facial Features ◽

Narrow Face ◽

Seckel Syndrome ◽

Small Head ◽

Autosomal Recessive Pattern

Seckel syndrome, first defined by Seckel in 1960, is a rare (incidence 1:10,000) genetically heterogeneous autosomal recessive disorder presenting at birth. Seckel described the disease on the basis of two cases he had studied in Chicago as well as 13 cases on nanocephalic dwarfs reported in the literature over a 200-year period. It is Characterized by dwarfism prenatally resulting in low birth weight, abnormally small head with a “bird‑headed” like appearance (beaked nose, receding forehead, prominent eyes, and micrognathia) and mental retardation. Other facial features include abnormally large eyes and narrow face. This syndrome has an autosomal recessive pattern of inheritance. A case of Seckel syndrome that was reported is described in this article.

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