Asymmetric Crying Facies with Multiple Congenital Malformations: a Case Report

Abstract

SYMMETRIC crying facies (ACF) is characterizedby facial asymmetry only when crying. It may present as an exclusive symptom, or be concomitant with other congenital malformations and even some fatal birth defects. Clinically, ACF is featured by drooping of the intact corner of the mouth during crying, while the face appears symmetric at rest. The facial nerve function is symmetric, as determined by frowning, forehead wrinkling, eye closure, and nasolabial fold depth.When ACF alone is present, the cause is often compression of the mandibular branch of the facial nerve that is probably due to birth trauma or abnormal fetal posture in utero.ACF with other congenital anomalies is usually caused by hypoplasia of the depressor anguli oris muscle (DAOM) on one side of the mouth. We described a 26-month-old girl with ACF and multiple congenital malformations in this report and reviewed the relevant literature regarding the occurrence, coexisting anomalies, probable etiologies, and surgical intervention. It is suggested that ACF can be an indicator of coexisting anomalies, and a comprehensive examination should be conducted in these patients. CASE DESCRIPTIONA 26-month-old girl came to the pediatrician's office with a fever and cough for 3 days. She was the first-born child of non-consanguineous ethnic Han Chinese parents.There was no family history of congenital defects.The patient was born at 38-5/7 weeks after an uncomplicated pregnancy. Birth weight was 3100 g, and Apgar score was 9. At birth, it was noted that (i) the right corner of her mouth drooped when crying and (ii) she had a congenital anal atresia accompanied with a rectovaginal fistula. Perineal anoplasty and vaginal repair surgery were performed under general anesthesia as a result on the 15th day after birth.Physical examination revealed normal closure of both eyes and contraction of both occipitofrontalis muscles.There was a marked depression of the right corner of the mouth during crying (Fig. 1)

Terminal 10q26.12 deletion is associated with neonatal asymmetric crying facies syndrome: a case report and literature review

“…The procedure has led to a 4-month improvement in smile symmetry [ 32 ]. Permanent strategies for correcting ACF asymmetry consist of selective myectomy of the contralateral DAOM and selective neurectomy of the contralateral marginal mandibular branch of the facial nerve [ 18 ].…”

“…Several studies associate the occurrence of ACF syndrome with the deletion of 22q11.2 or 4p. Pasick et al found that 14% of the subjects (117/836) carrying 22q11.2 deletions exhibited ACF [18]. However, the genetic contributions of the genes located in 22q11.2 to symptoms of ACF remain unexplained.…”

Congenital asymmetric crying facies syndrome

“…[ 6 ] Intrauterine viral infections, chromosomal aberrations, hereditary factors, or a defect located at the brainstem level can cause a defect in the depressor anguli oris muscle (DAOM) development, [ 2 ] one of the muscles that control the movements of the lower lip, on one side of the mouth. [ 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.…”

“…NACF has been suggested to be an indicator of coexisting anomalies, which can involve nearly all systems, such as the cardiac system, central nervous system, cervicofacial region, gastrointestinal and genitourinary system, respiratory system, musculoskeletal system, skin, and soft tissues, [ 2 , 9 ] the cervicofacial region and cardiovascular system being the most commonly involved. [ 4 ] Major cervicofacial malformations frequently occur on the same side as the DAOM hypoplasia. [ 9 ] In our case, the ear and left hand malformations were observed on the same side as the dysplasia of the DAOM.…”

“…[ 2 , 3 ] This can be an isolated clinical finding or be coupled with other congenital malformations; ACF is associated with other birth defects in approximately 45% to 70% of cases. [ 4 ] When associated with other anomalies, it is known as ACF syndrome.…”