Macroglossia – Marker for Trisomy 21
Macroglossia – Marker for Trisomy 21
Macroglossia is the abnormal enlargement of the tongue.
Congenital - secondary to a primary disorder; Down syndrome or Beckwith-Wiedemann syndrome, acromegaly, primary amyloidosis, congenital hypothyroidism, Apert syndrome
Diagnosis - tongue remains outside the mouth regardless of swallowing movements of lips.
If swallowing is impaired; might lead to polyhydramnios.
Differential diagnosis
Intrinsic mass involving the tongue; lymphangioma, epignathus intra-oral duplcation cyst
When isolated it is usually sporadic; but Autosomal Dominant transmission has been described in families
If macroglossia is associated with an omphalocele, this is diagnostic of Beckwith-Wiedemann syndrome; other findings might be omphalocele, nephromegaly, gigantism, hepatomegaly, genital anomalies, cystic adrenal glands, heart defects.
In Absence of an omphalocele, it is regarded as a Marker for Trisomy 21.
Macroglossia being a marker for Trisomy 21 is being described by Dr Ashutosh Gupta; www.fetalandgeneticclinic.com Contact – 9953728760; Clinic – E – 874, Chittaranjan Park, New Delhi 110019
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