* Measurements of curving slopes such as the nasal width, of small dimensions such as nostril floor width, and deformity-affected anatomic parts such as philtrum
width presented low reliability.
In cases where the patient has a short philtrum
, this should be performed with rhinoplasty.
The median nasal prominence gives rise to midline structures, including the vomer and nasal septum, the medial and inferior portions of the nostril, the philtrum
, and the primary palate
The birth weight was 1430 gr, dysmorphic features included periorbital oedema, long philtrum
, thin upper lip, everted lover lip, micrognathia, pointed chin, posteriorly rotated ears and cutis marmorata.
Elements of morphology: Standard terminology for the nose and philtrum
. American Journal of Medical Genetics Part A, 149A(1), 61-76.
This syndrome is characterized by deficiency of pre and postnatal growth, hypertrichosis cubiti or generalized hypertrichosis, psychomotor delay, intellectual disability with behavioral alterations and distinctive facial features with narrow nose, sinofris, ocular hypertelorism, long philtrum
, short palpebral fissures, low set ears and an ogival palate.
This genomic syndrome is characterized by the presence of facial dysmorphia (microcephaly, prominent forehead, abnormal auricles with ear pits or skin tags, down-slanting palpebral fissures, long philtrum
, micrognathia and cleft palate) and severe intellectual disability with elayed development.
Pathologic autopsy showed narrow palpebral fissures, a long philtrum
, cupid's bow upper lips with a thin vermilion border, and facial hirsutism and low-set ears (Figures 3 and 4), bilateral absence of corneal endothelium and Descemet membrane, bilateral optic nerve degeneration (Figures 5 and 6), bilateral cataracts, agenesis of the corpus callosum, and hydrocephalus.
These cases may be accompanied by dysmorphic findings, joint hyperelasticity, pectus excavatum, scoliosis, cafe-au lait spots, frontal bossing, hypertelorism, a short palpebral fissure, a long philtrum
and proximal muscle myopathy (3).
CdLS patients have a distinguishing facial appearance, namely synophrys joining at the midline and with an arched appearance of the eyebrows, thick, and long eyelashes, extending down to the bridge of the nose, long prominent philtrum
with down-turned lip corners short and flattened nose, hirsute forehead, and cutis marmorata.
The medial nasal prominence forms the philtrum
of upper lip, crest and tip of nose, while the lateral nasal prominence forms the ala of nose.