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Related Experiment Videos

Congenital HIPO syndrome.

T B Hanley, J W Simon

    Annals of Ophthalmology
    |April 1, 1984
    PubMed
    Summary

    A rare combination of hemihypertrophy, intestinal web, skin tag, and corneal opacity was observed in a newborn girl. This case is compared to Goldenhar syndrome, highlighting distinct congenital anomalies.

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    Area of Science:

    • Medical genetics
    • Developmental biology
    • Pediatric medicine

    Background:

    • Congenital anomalies present unique diagnostic challenges.
    • Understanding rare genetic syndromes is crucial for accurate diagnosis and management.
    • Goldenhar syndrome (oculoauriculovertebral spectrum) is characterized by craniofacial and vertebral defects.

    Observation:

    • A newborn female presented with a distinct constellation of anomalies.
    • Observed features included hemihypertrophy, intestinal web, preauricular skin tag, and congenital corneal opacity.
    • This specific combination of findings is not typically described in classic Goldenhar syndrome.

    Findings:

    • The patient exhibited hemihypertrophy affecting one side of the body.
    • Intestinal malformation was noted in the form of an intestinal web.
    • Ocular and auricular anomalies included congenital corneal opacity and a preauricular skin tag, respectively.

    Implications:

    • This case expands the spectrum of known congenital anomaly associations.
    • Distinguishing this presentation from Goldenhar syndrome is important for prognosis and genetic counseling.
    • Further research may elucidate the underlying genetic or developmental pathways involved in this specific combination of anomalies.

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