Case of the month. A 3.5-year-old female with developmental delays, hepatomegaly, and coarse facies.
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Craniofacial deformities of 14 patients with amniotic band syndrome at one institution were reviewed for morphologic similarities. In addition to associated cleft lip and palate, vertical and oblique facial clefts, which were not associated with embryologic lines of fusion, were seen. It is hypothesized that the prominence of the nasal processes combined with the adjacent stomodeal orifice results in utero surfaces, which can lead to free band attachment and adherence, resulting in a spectrum of similarly oriented facial defects.
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A 1-year-old child with clinical features of monosomy 14 is reported. She has dysmorphic facial features including ocular colobomata, dolichocephaly and microcephaly, retinal pigmentation, severe seizures, fair curly hair and tapering fingers. There was severe mental retardation. This is the first reported case of severe mosaic monosomy 14, with up to 30% mosaicism. A recognizable facial gestalt is present in children with 14q deletions or partial monosomy 14, as well as susceptibility to infection, feeding difficulties, seizures and retinal pigmentation.
A patient is described with renal, ear and hair abnormalities. The patient also had a distinctive facial appearance. No similar patients have been described and it is likely this patient represents a new entity.
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Asymmetric crying face (ACF) means a congenital anomaly caused by either agenesis or hypoplasia of the depressor anguli oris muscle. This defect is on only one corner of the mouth since the birth, affects lower lip, and is particularly evident when the newborn is crying. Lesions at different levels of seventh nerve can cause similar and confounding weakness of the facial expressions. But, in case of ACF, forehead wrinkling, eye closure, nasolabial fold depth, and tearing are normal and symmetric functions. ACF can be either as single plain aesthetic defect or as early only index of several congenital malformations, especially of heart and genitourinary tract. Our study recognized 80 ACF cases in 11,643 newborn's population during a 34 consecutive month period: 34 on right side and 46 on left side of the mouth. ACF population presented a higher malformative risk than general population (on average 4.73% versus 3.3% of our base-line). Congenital anomalies were found more frequently associated with left ACF (3 versus 1, for a general rate of 6.52% versus 2.94%), on the same body side when anomaly was affecting pair organs. Those 3 congenital malformations were on genitourinary tract, 2 of which detected by ultrasonography. We did not find any congenital cardiac defects. According to opinion of numerous other researchers, we think ACF is not to be considered a simple aesthetic anomaly: therefore, in front of all ACF cases, a thorough search for associated anomalies should be performed.
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