Asymmetric Crying Facies

Shapira, Moshe; Borochowitz, Zvi

doi:10.1542/neo.10-10-e502

Cited by 17 publications

(29 citation statements)

References 16 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…[ 4 , 7 ] Familial occurrence has been reported, and the mode of inheritance has been suggested as autosomal dominant inheritance with variable expressivity. [ 8 , 9 ] Some studies revealed that it is associated with chromosomal anomalies, such as 22q11.2 deletion. [ 10 , 11 ] Therefore, genetic deletion testing should be suggested when ACF is suspected in a newborn.…”

Section: Discussionmentioning

confidence: 99%

Congenital asymmetric crying facies syndrome

Liang¹,

He²

2018

Medicine

View full text Add to dashboard Cite

Introduction:Congenital asymmetric crying facies (ACF) in newborns is a rare condition usually caused by unilateral agenesis or hypoplasia of the depressor anguli oris muscle on one side of the mouth (symmetric face at rest and asymmetric face while crying), which is often accompanied with other malformations.Case report:We present a case of a female newborn with nonconsanguineous ethnic Han Chinese parents who presented with 37 minutes of breathlessness and asymmetrical face when crying. A thorough physical examination had been conducted. The patient was diagnosed with aspiration pneumonia and congenital ACF syndrome, accompanied with congenital bilateral anophthalmia, left homolateral auricle dysplasia, malformation in the left-hand thumb, patent ductus arteriosus (PDA), and patent foramen ovale (PFO) and tracheoesophageal fistula. The patient's mother underwent routine fetal sonogram at 25 weeks gestation, which showed major anatomical anomalies in the eyes of the fetus. The mother chose to pregnancy until vaginal delivery. This case is unique because congenital bilateral anophthalmia has not been reported in such patients before.Conclusion:Careful physical examination of newborns and genetic testing are important for early diagnosis of neonatal asymmetric crying facies (NACF), especially if ACF is present. Early determination of the etiology and future screenings are very important for the management of this condition. The lower lip on the affected side looks thinner because of the lack of the muscle agenesis, so the use of ultrasound to observe facial muscles and electrodiagnostic testing could be helpful for the differential diagnosis of NACF from congenital facial nerve dysplasia.

show abstract

Section: Discussionmentioning

confidence: 99%

Congenital asymmetric crying facies syndrome

Liang¹,

He²

2018

Medicine

View full text Add to dashboard Cite

show abstract

“…The ACF neonates show both nasolabial folds with normal, symmetrical depth and do have the normal ability to lift their forehead and close both eyes. This anomaly must be distinguished from facial nerve paralysis, which is less common [5]. In 20-70% of cases, ACF is associated with other congenital abnormalities, the most common being head/neck, cardiovascular, musculoskeletal, genitourinary and gastrointestinal.…”

Section: Incidencementioning

confidence: 99%

The Neonate with Minor Dysmorphisms

Vlădăreanu¹,

Boț²,

Berceanu³

et al. 2018

Congenital Anomalies - From the Embryo to the Neonate

View full text Add to dashboard Cite

Congenital anomalies are present in at least 10% of all neonatal intensive care unit admissions, of whom many have an underlying genetic condition. About 50-60% of human congenital anomalies are of unknown etiology, and approximately one-third are caused by genetic factors. A smaller percentage of birth defects are the result of chromosomal aberrations and gene mutations. Around 1 in 40 or 2.5% of all newborns have a malformation at birth. This may be an isolated malformation or may occur together with other malformations and/or dysmorphic features as part of a malformation syndrome. Around 4000 malformation syndromes have now been delineated. Many are associated with medical problems and making a specific syndrome diagnosis can influence immediate medical management. However, the infant with dysmorphism often does not have a major malformation, and may simply have an appearance that is unusual compared with the general population and of unaffected close relatives. The chapter intends to provide semnificative data concerning the approach and management of a dysmorphic neonate, mainly when there are minor anomalies and will offer all those relevant data and try to establish a protocol guide for the approach of the dimorphic neonate.

show abstract

“…Asymmetric crying facies (ACF) is characterised by lower lip asymmetry in neonates only during crying 1. ACF has an incidence of 1:160 live births 1.…”

Section: Descriptionmentioning

confidence: 99%

“…ACF has an incidence of 1:160 live births 1. It can result from a developmental abnormality caused by absence (agenesis) or incomplete development (hypoplasia) of the depressor muscle of the angle of the mouth or of the depressor muscle of the lower lip; likewise, it can result from a traumatic compression of the facial nerve in utero or during labour 1 2…”

Section: Descriptionmentioning

confidence: 99%