These include microcephaly, short palpebral fissures
, the long smooth philtrum and thin vermilion of the upper lip, joint anomalies, altered palmar crease pattern, and mental retardation.
Among others, these include hypoplastic zygomas, downward sloping palpebral fissures
, malformed pinnae, abnormalities of the external auditory canal (stenosis or atresia), maldevelopment of the ossicles, absence of middle ear and tympanic spaces, pharyngeal hypoplasia, deficient mandibular rami and a cleft palate.
Physical features of the more serious Fetal Alcohol Syndrome (FAS) include smooth philtrum, thin vermillion border, short palpebral fissures
, microcephaly, and growth deficiencies in weight and height.
Case Report: The patient had high forehead, frontal bossing, macrocephaly, apparent hypertelorism, down-slanting palpebral fissures
and a broad nasal root.
Table Summary and Comparison of the Various Diagnostic Schemas for Prenatal Alcohol Related Disorders 4-Digit Code (5) Revised IOM (6) FAS Facial Simultaneous presentation Two of the following: Characteristics of short palpebral short palpebral fissures
fissures ([less than or ([less than or equal to] equal to] 2 SDs), thin 10th percentile), thin vermillion border, smooth vermillion border, smooth philtrum.
He had down-slanting palpebral fissures
, hypertelorism, broad nasal bridge, microphthalmia, low-set ears, macrocephaly, gingival hypertrophia, simian line in both hands, pectus excavatum, sacral dimple, and foot deformity (spontaneous plantar flexion of the fourth metatars).
17) The facial features described in children with VCFS include a narrow face, narrow palpebral fissures
, a prominent tubular nose, a bulbous nasal tip, a small open mouth and a recessed jaw.
The characteristics of Coffin-Lowry syndrome can certainly be within easy reach if someone could connect downward slanting palpebral fissures
, a broad nose with thick alar cartilage and thick lips (don't forget the short stature, large hands, and tapering fingers) with the imagery of melting popsicles on a hot Sunday in the park or some other easily retrieved vision.
The full syndrome is easily recognised with facial features of short palpebral fissures
(the opening length of the eye), smooth philtrum (the vertical groove or dimple in the upper lip) and thin upper lip in an infant with developmental delay, growth failure and hyperactivity.
At 1 month after the surgery, the palpebral fissures
appeared healed and stable in length.
On physical examination, the boy had a long vertical face, low-set ears, narrow palpebral fissures
, a broad nasal bridge, and a fleshy nasal tip (figure 1, A).
Confirming the diagnosis were many characteristic physical signs: midface hypoplasia (flatness across the nasal bridge), long smooth philtrum (little grooving above the upper lip), and short palpebral fissures
(small opening below the eyelid).