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Congenital abnormalities
Congenital anomalies
Female, 1
My was born with asymmetric crying face and also her right foot big toe is abnormal and in that toe proximal phalanges is missing and it is bent like 90 degree and short. Left foot is normal. 2d echo and internal scan are done all are normal. Her development is completely normal till now. No family history.Is this condition genetic ?
Answers (8)
Congenital hypoplasia of depressor anguli oris muscle
The frequency of hypoplasia of the depressor anguli oris muscle was 37 cases among 4 530 consecutive births (8·2%). Diagnosis was based on clinical and electromyographic studies. Severe congenital anomalies were detected in 3 of the 37 cases, while another 3 newborns had minor congenital defects. In 17 of the 37 cases there were first- or second-degree relatives with lower lip asymmetry. A minimum of 13 out of the 74 parents of the probands were affected. The high incidence of affection among first-degree relatives of the probands is strong evidence of hereditary factors playing a role in the aetiology of this anomaly.
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presentation shares characteristics with an isolated finding, which can sometimes occur randomly without an underlying genetic pattern. However, it is also consistent with a syndromic condition, such as Cayler cardiofacial syndrome or a 22q11.2 microdeletion, where asymmetric facial expressions are paired with musculoskeletal or limb anomalies.
Since your initial internal scans and echocardiogram are completely normal, the likelihood of a major systemic syndrome is lower. To explore this further, potential management options include seeking a formal clinical evaluation from a pediatric geneticist, pursuing targeted genetic testing (such as a chromosomal microarray), or consulting a pediatrician
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Dr Faisal Zoheb
MBBS , MD PAEDIATRICS , PGPN (BOSTON), FELLOWSHIP IN NEONATOLOGY ( Newborn and vaccination specialist )
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