An Unusual Ocular Finding Associated With Chromosome lq Deletion Syndrome

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.

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The Alice in Wonderland Syndrome in Juvenile Migraine

PEDIATRICS ◽

10.1542/peds.63.4.517 ◽

1979 ◽

Vol 63 (4) ◽

pp. 517-519

Author(s):

Gerald S. Golden

Keyword(s):

Body Image ◽

Family History ◽

Psychiatric Illness ◽

Visual Analysis ◽

Drug Ingestion ◽

Alice In Wonderland ◽

History Of

Two children are reported who had recurrent attacks of impairment of time sense, body image, and visual analysis of the environment. These occurred with a clear state of consciousness and in the absence of any evidence of an encephalitic process, seizures, drug ingestion, or psychiatric illness. Both children had recurrent headaches; one was clearly migrainous. There was a family history of migraine in both cases. These children represent examples of the Alice in Wonderland syndrome in juvenile migraine.

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Fragile X Syndrome: Recognition in Young Children

PEDIATRICS ◽

10.1542/peds.83.4.547 ◽

1989 ◽

Vol 83 (4) ◽

pp. 547-552

Author(s):

Aaron Simko ◽

Lusia Hornstein ◽

Shirley Soukup ◽

Nancy Bagamery

Keyword(s):

Mental Retardation ◽

Family History ◽

Young Children ◽

Fragile X Syndrome ◽

Developmental Disorders ◽

Motor Coordination ◽

Fragile X ◽

Nasal Bridge ◽

History Of ◽

Physical Findings

In recent years, a number of articles have appeared in the literature concerning the fragile X syndrome; however, in few cases was the diagnosis of the syndrome in young children discussed. A review of 20 children younger than 7½ years of age who had the fragile x syndrome seen at the Cincinnati Center of Developmental Disorders was undertaken in an attempt to establish guidelines that would aid the practicing physician in determining which children should have a chromosomal analysis. All children were developmentally delayed; 95% had speech delays. Short attention span with hyperactivity, temper tantrums, mouthing of objects persisting at an age beyond when it would be expected, autistic behaviors, and poor gross motor coordination were seen in 50% or more of the children. Mental retardation was present in the family history of 65%, and 90% had a family history of at least one of the following mental retardation, learning disabilities, or hyperactivity. The most common physical findings were long and/or wide and/or protruding ears, prominent jaw and/or long face, high arched palate, and a flattened nasal bridge. The fragile x syndrome can be recognized by noting key aspects of the behavioral and family histories as well as the physical findings.

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Congenital absence of the nasal septum in a Nigerian newborn with multiple congenital anomalies

BMJ Case Reports ◽

10.1136/bcr-2020-235845 ◽

2020 ◽

Vol 13 (9) ◽

pp. e235845

Author(s):

Isa Abdulkadir ◽

Sani Musa ◽

Fatima Lami Abdullahi ◽

Laila Hassan

Keyword(s):

Congenital Anomalies ◽

Nasal Septum ◽

Relevant Literature ◽

Congenital Absence ◽

Multiple Congenital Anomalies ◽

Nasal Bridge ◽

Resource Limited ◽

History Of ◽

Term Baby

Congenital absence of the nasal septum (hyporhynia) is infrequently reported in the literature. We report a rare case in a newborn with multiple congenital anomalies with the aim to highlight its rarity and compatibility with life in a resource-limited setting. The case notes of the child were summarised and the relevant literature reviewed to give the report a context. A 2-hour-old term baby boy presented with a history of abnormal facie characterised by a single nostril and noisy breathing. On examination, he had stridulous breathing, bilateral proptosis, sloping of the forehead, depressed nasal bridge absent nasal septum, absence of columella and hypoplastic mid-face, among other dysmorphic features. A diagnosis of hyporhynia in a baby with multiple congenital anomalies was made and managed accordingly. The baby was discharged to continue follow-up. Congenital absence of the nasal septum is rare and could present without respiratory distress and may be compatible with life.

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The G syndrome/Opitz oculo-genital-laryngeal syndrome/Opitz BBB/G syndrome/Opitz-Frias syndrome

The Journal of Laryngology & Otology ◽

10.1017/s0022215100129810 ◽

1995 ◽

Vol 109 (3) ◽

pp. 244-246 ◽

Cited By ~ 3

Author(s):

Brendan J. Conlon ◽

Tadhg O'Dwyer

Keyword(s):

Family History ◽

Early Diagnosis ◽

Perinatal Mortality ◽

Congenital Anomalies ◽

Strong Family History ◽

The Family ◽

History Of ◽

Maternal Side

AbstractWe report on a family exhibiting a range of congenital anomalies consistent with the G syndrome of Opitz. Three members of the family had laryngo-tracheo-oesophageal clefts, one of which succumbed. There was a strong family history of perinatal mortality on the maternal side of the family. We note also the paucity of reported cases of this syndrome in the otolaryngological literature and stress the necessity of early diagnosis in the management.

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Ring Chromosome 13 in an Infant Girl

Journal of Nepal Paediatric Society ◽

10.3126/jnps.v34i1.7961 ◽

2014 ◽

Vol 34 (1) ◽

pp. 74-76 ◽

Cited By ~ 1

Author(s):

B Jodeiry ◽

SA Rahmani ◽

H Javaherizadeh ◽

K Mirnia

Keyword(s):

Family History ◽

Genetic Disorder ◽

Ring Chromosome ◽

Nasal Bridge ◽

Genetic Syndrome ◽

Chromosome 13 ◽

First Report ◽

History Of ◽

Iranian Children ◽

Infant Girl

Ring chromosome 13, is an uncommon genetic syndrome. We report a girl infant with ring chromosome 13. She is 2nd offspring of family. She had no family history of genetic disorder. Karyotype showed 46xx,r(13). She had hypertelorism, wide nasal bridge, and long philtrum. She is the first report of ring chromosome 13 in Iranian children. DOI: http://dx.doi.org/10.3126/jnps.v34i1.7961 J Nepal Paediatr Soc 2014;34(1):74-76

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Language Onset and Concomitant Speech and Language Problems in Subgroups of Stutterers and Their Siblings

Journal of Speech Language and Hearing Research ◽

10.1044/jshr.2504.482 ◽

1982 ◽

Vol 25 (4) ◽

pp. 482-486 ◽

Cited By ~ 12

Author(s):

Robin A. Seider ◽

Keith L. Gladstien ◽

Kenneth K. Kidd

Keyword(s):

Family History ◽

Same Sex ◽

Speech And Language ◽

Negative Family History ◽

Late Talkers ◽

Language Problems ◽

History Of ◽

Language Onset

Time of language onset and frequencies of speech and language problems were examined in stutterers and their nonstuttering siblings. These families were grouped according to six characteristics of the index stutterer: sex, recovery or persistence of stuttering, and positive or negative family history of stuttering. Stutterers and their nonstuttering same-sex siblings were found to be distributed identically in early, average, and late categories of language onset. Comparisons of six subgroups of stutterers and their respective nonstuttering siblings showed no significant differences in the number of their reported articulation problems. Stutterers who were reported to be late talkers did not differ from their nonstuttering siblings in the frequency of their articulation problems, but these two groups had significantly higher frequencies of articulation problems than did stutterers who were early or average talkers and their siblings.

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