THE ORAL-FACIAL-DIGITAL SYNDROME: A MALE-LETHAL CONDITION IN A BOY WITH 47/XXY CHROMOSOMES

PEDIATRICS ◽  
1966 ◽  
Vol 37 (5) ◽  
pp. 812-821
Author(s):  
Jacob Wahrman ◽  
Moshe Berant ◽  
Joseph Jacobs ◽  
Ithamar Aviad ◽  
Nahum Ben-Hur
Keyword(s):  
Male Infant ◽  
Mutant Gene ◽  
Lethal Effect ◽  
Normal Allele ◽  
Upper Lip ◽  
X Ray ◽  
X Linkage ◽  
Dominant Mutant ◽  
Cytogenetic Studies ◽  
Dystopia Canthorum

A male infant is described showing all the major features of the oral-facial-digital syndrome (OFD): lobulated tongue with hypertrophic frena, fibrous bands extending into alveolar clefts, pseudocleft of upper lip, cleft palate, hypoplastic alae nasi, dystopia canthorum, various digital anomalies, and typical X-ray appearance of the skull. A partial agenesis of the corpus callosum with a lipoma was indicated by pneumoencephalography and angiography. The OFD syndrome is confined to females. In the present case an XXY chromosome constitution was demonstrated by cytogenetic studies. The occurrence of OFD and Klinefelter's syndrome in one and the same person is ascribed to a very rare coincidence. OFD is considered to be due to an X-linked dominant mutant gene, with a recessive lethal effect. X-linkage is supported by the pattern of a more extreme lethal expression in hemizygous males versus viability of heterozygous females. An XXY individual is viable, presumably because of the normal allele which is active in a fraction of its cells. Other reports of males with OFD are critically evaluated.

Developmental Morphology of the Skin and Hair Follicles in Normal and in “Ragged” Mice

Development ◽  
1962 ◽  
Vol 10 (4) ◽  
pp. 507-529
Author(s):  
J. Slee
Keyword(s):  
Hair Growth ◽  
Mutant Gene ◽  
Hair Follicles ◽  
Mutant Mice ◽  
Developmental Morphology ◽  
Adult Morphology ◽  
Dominant Mutant

Ragged (Ra) is a semi-dominant mutant gene which was first reported by Carter & Phillips (1954). The adult morphology, the genetics, and the embryology of the mutant mice were described by Slee (1957 a, b). It was found that adult ragged heterozygotes (Ra+) had sparser coats than normal, many of their hair follicles being incompletely developed and non-functional. Ragged homozygotes (RaRa) were almost naked. Most of their pelage hair follicles were either absent, or abnormal and non-functional. Ra+ embryos could be identified from 16 days' gestation by the retardation of their sinus hair-growth. RaRa embryos were characterized from 13 days' gestation by the occurrence of a generalized subcutaneous oedema which persisted until birth, and also by retardation in the development of their sinus hairs and follicles. Pelage follicle primordia appeared at the normal time (14 days' gestation) in Ra+ and RaRa embryos but subsequently developed slowly in RaRa embryos, especially when the oedema was pronounced.

scholarly journals Lethal Effect of X-ray and ACNU on Cultured Rat Glioma Cells in Multicellular Spheroids

1984 ◽  
Vol 24 (10) ◽  
pp. 758-766 ◽  
Author(s):  
Satoru SUGIYAMA ◽  
Teruaki MORI ◽  
Jiro SUZUKI ◽  
Takehito SASAKI
Keyword(s):  
Glioma Cells ◽  
Lethal Effect ◽  
Multicellular Spheroids ◽  
X Ray ◽  
Rat Glioma

scholarly journals Mutational activation of the N-ras oncogene assessed in primary clonogenic culture of acute myeloid leukemia (AML): implications for the role of N-ras mutation in AML pathogenesis

Blood ◽  
1992 ◽  
Vol 79 (4) ◽  
pp. 981-989 ◽  
Author(s):  
A Bashey ◽  
R Gill ◽  
S Levi ◽  
CJ Farr ◽  
R Clutterbuck ◽  
...  
Keyword(s):  
Acute Myeloid Leukemia ◽  
Myeloid Leukemia ◽  
Mutant Gene ◽  
Leukemic Cells ◽  
Normal Allele ◽  
Ras Mutation ◽  
Ras Mutations ◽  
Mutational Activation ◽  
Acute Myeloid

The number of steps involved in the pathogenesis of acute myeloid leukemia (AML) is unclear. The initiating event would be expected to exist in all leukemic cells, but subsequent events may be subclonal. If several genetic events occur, they may cooperate within the same cell or be alternatively acquired by different subclones. These possibilities cannot be adequately analyzed in DNA prepared directly from patient specimens. In this study, N-ras mutations demonstrable in DNA prepared from peripheral blood of 10 patients with AML were examined in primary in vitro colonies (AML-colony-forming units [CFU]) grown from these patients. Both colonies containing the mutant gene and colonies containing normal allele only were obtained from each patient. The proportion of colonies containing no mutant allele varied among patients (5% to 57%). A subset of mutation containing colonies appeared to have lost the normal allele in nine of 10 AML cases analyzed. In the four cases with two N-ras mutations, the two mutations were found to exist in different subclones. In these cases, macroscopic colonies (AML- MCFU) were also obtained using an assay system designed to select for earlier clonogenic cells than in the AML-CFU assay. The N12cys mutation in AML10 was found in the CFU, but not in the MCFU, and the N12asp mutation in AML43 was found in the MCFU, but not in the CFU. These results suggest that N-ras mutation is a postinitiation event in AML that contributes to the outgrowth of more malignant subclones. Where two mutations are found in a case of AML, they appear to have been acquired by separate subclones, which may show different degrees of differentiation.

scholarly journals Mutational activation of the N-ras oncogene assessed in primary clonogenic culture of acute myeloid leukemia (AML): implications for the role of N-ras mutation in AML pathogenesis

Blood ◽  
1992 ◽  
Vol 79 (4) ◽  
pp. 981-989 ◽  
Author(s):  
A Bashey ◽  
R Gill ◽  
S Levi ◽  
CJ Farr ◽  
R Clutterbuck ◽  
...  
Keyword(s):  
Acute Myeloid Leukemia ◽  
Myeloid Leukemia ◽  
Mutant Gene ◽  
Leukemic Cells ◽  
Normal Allele ◽  
Ras Mutation ◽  
Ras Mutations ◽  
Mutational Activation ◽  
Acute Myeloid

Abstract The number of steps involved in the pathogenesis of acute myeloid leukemia (AML) is unclear. The initiating event would be expected to exist in all leukemic cells, but subsequent events may be subclonal. If several genetic events occur, they may cooperate within the same cell or be alternatively acquired by different subclones. These possibilities cannot be adequately analyzed in DNA prepared directly from patient specimens. In this study, N-ras mutations demonstrable in DNA prepared from peripheral blood of 10 patients with AML were examined in primary in vitro colonies (AML-colony-forming units [CFU]) grown from these patients. Both colonies containing the mutant gene and colonies containing normal allele only were obtained from each patient. The proportion of colonies containing no mutant allele varied among patients (5% to 57%). A subset of mutation containing colonies appeared to have lost the normal allele in nine of 10 AML cases analyzed. In the four cases with two N-ras mutations, the two mutations were found to exist in different subclones. In these cases, macroscopic colonies (AML- MCFU) were also obtained using an assay system designed to select for earlier clonogenic cells than in the AML-CFU assay. The N12cys mutation in AML10 was found in the CFU, but not in the MCFU, and the N12asp mutation in AML43 was found in the MCFU, but not in the CFU. These results suggest that N-ras mutation is a postinitiation event in AML that contributes to the outgrowth of more malignant subclones. Where two mutations are found in a case of AML, they appear to have been acquired by separate subclones, which may show different degrees of differentiation.

Fibrous Hamartoma of Infancy: A Case Report With Associated Cytogenetic Findings

2005 ◽  
Vol 129 (4) ◽  
pp. 520-522 ◽  
Author(s):  
Renuka Lakshminarayanan ◽  
Thomas Konia ◽  
Jeanna Welborn
Keyword(s):  
Case Report ◽  
Local Excision ◽  
Reciprocal Translocation ◽  
Benign Neoplasm ◽  
Male Infant ◽  
Middle Finger ◽  
Cytogenetic Studies ◽  
Fibrous Hamartoma Of Infancy ◽  
Subcutaneous Mass ◽  
Left Middle

Abstract A 2-month-old male infant presented with a subcutaneous mass on the left middle finger; the mass had been present since birth. This was treated with local excision, and there has been no recurrence. Histology revealed the typical features of a fibrous hamartoma. Cytogenetic studies revealed a reciprocal translocation, t(2;3)(q31;q21), as the sole abnormality. To our knowledge, this is the first report of the cytogenetic findings in fibrous hamartoma, and it suggests that this lesion represents a benign neoplasm.

Holt–Oram syndrome with aortopulmonary window – a rare association

2013 ◽  
Vol 24 (5) ◽  
pp. 947-949
Author(s):  
Sunil K. Srinivas ◽  
Vijayalakshmi I. Balekundri ◽  
Cholenahally N. Manjunath
Keyword(s):  
Upper Limb ◽  
Septal Defect ◽  
Male Infant ◽  
Aortopulmonary Window ◽  
Secundum Atrial Septal Defect ◽  
Device Closure ◽  
X Ray ◽  
Rare Association ◽  
Absent Radius ◽  
The Right

A 4-month-old male infant presented with recurrent cough for 2 months. He had a shortened right upper limb with absent right thumb and continuous murmur in the left parasternal area. The X-ray showed an absent radius and the first metacarpal and phalyngeal bones on the right side. Echocardiogram revealed aortopulmonary window and small secundum atrial septal defect. Aortopulmonary window was successfully treated by device closure. Holt–Oram syndrome with aortopulmonary window is an extremely rare association.

scholarly journals HEREDITARY ACHONDROPLASIA IN THE RABBIT

1945 ◽  
Vol 82 (4) ◽  
pp. 241-260 ◽  
Author(s):  
Wade H. Brown ◽  
Louise Pearce
Keyword(s):  
Physical Appearance ◽  
Lethal Effect ◽  
Size Reduction ◽  
X Ray ◽  
Skeletal Changes ◽  
Unit Factor ◽  
Mode Of Inheritance

An achondroplastic condition in the rabbit has been described. It is present at birth and is characterized by size reduction, by a disproportion of bodily parts, most marked in the extremities, and by an invariably lethal effect. The animals are still-born or die very shortly after birth. In physical appearance and in the character of the skeletal changes as shown by x-ray photographs, achondroplasia in the rabbit has a remarkable resemblance to the disease in man and in cattle and dogs. The condition which first occurred in offspring of pure bred Havana rabbits is inherited. In anticipation of the later discussion of this phase of the study (13), it can be stated that the mode of inheritance is on the basis of a simple recessive unit factor and that the appearance of non-achondroplastic transmitters (heterozygotes) is that of normal animals.

scholarly journals Neonatal Tension Pneumothorax.

2020 ◽  
pp. 1-2
Keyword(s):  
Bowel Perforation ◽  
Tension Pneumothorax ◽  
Male Infant ◽  
Clinical Image ◽  
Chest Drain ◽  
Chest Drainage ◽  
X Ray ◽  
Transient Improvement ◽  
Chest X Ray ◽  
Milk Feeding

Clinical Image A 690 g male infant delivered at 24+2 weeks had respiratory distress syndrome treated with Curosurf. Chest X-ray showed pulmonary interstitial emphysema (PIE) changes from day 5 onwards. On day 6 he suddenly developed desaturation with bradycardia, not responding to bagging. Auscultation revealed reduced air entry over right lung; endotracheal tube was changed for suspected blockage. Transient improvement noted. Then, the baby deteriorated again. Repeated auscultation showed markedly reduced air entry over right lung. Transillumination was positive. X-ray confirmed right tension pneumothorax but pneumoperitoneum was unexpected (Figure 1). The baby’s condition did not improve upon repeated chest tapping and required chest compression and Adrenaline. A chest drain was inserted and the baby then improved. Bowel perforation was once suspected but the infant improved so dramatically after chest drainage and milk feeding was subsequently established, ruling out bowel perforation.

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