Tetrasomy 9p syndrome in a Filipino infant

@#Tetrasomy 9p syndrome is a rare chromosomal abnormality syndrome whose most common features include hypertelorism, malformed ears, bulbous nose and microretrognathia. These features present as a result of an additional two copies of the short arm of chromosome 9. Here we present a neonate with characteristic facial features of hypertelorism, downslanted palpebral fissure, bulbous nose, small cupped ears, cleft lip and palate, and downturned corners of the mouth. Clinical features were consistent with the cytogenetic analysis of tetrasomy 9p. In general, clinicians are not as familiar with the features of tetrasomy 9p syndrome as that of more common chromosomal abnormalities like trisomies 13, 18, and 21. Hence, this case re-emphasizes the importance of doing the standard karyotyping for patients presenting with multiple congenital anomalies. Also, this is the first reported case of Tetrasomy 9p syndrome in Filipinos.

Bulbous Tip Correction Focusing on Skin Soft Tissue Envelope in Asian Rhinoplasty

BACKGROUND: Correction of a bulbous tip is a difficult procedure in Asians, because their lower lateral cartilage is relatively small and structurally weak to support the thick skin soft tissue envelope (SSTE). Therefore, lower lateral cartilage manipulation alone yields inadequate bulbous tip correction. In this study, authors aim to provide a new bulbous tip definition reflecting nasal tip SSTE and categorization with a suitable surgical procedure. METHODS: One hundred sixty-three patients with tip rhinoplasty between January 2009 and December 2012 were studied who had a tip lobular width greater than 60% of the alar base width. Depending on cartilage size and characteristics of the nasal tip superficial musculoaponeurotic system (SMAS) with SSTE thickness, the following classifications were made: Group I: thin SSTE with a large lower lateral cartilage, Group II: thick SSTE with a small lower lateral cartilage, Group IIa: thick SSTE with loose SMAS, and Group IIb: thick SSTE with dense SMAS. We evaluated the degree of surgical improvement by comparing pre- and postoperative photographs. RESULTS: After comparing pre- and postoperative photos, we observed improvements in tip bulbosity by 11.7% in Group I (n=41), 11.9% in Group IIa (n=64), and 7.1% in Group IIb (n=58). CONCLUSIONS: In Asians, nasal tip bulbosity is often due to excess SSTE. Therefore, a bulbous tip should be defined and evaluated based on its underlying SSTE. Adequate soft tissue resection in addition to lower lateral cartilage support and manipulation are warranted to achieve a refined tip.

Nasal Tip Plasty on the Bulbous Nose Revisited

Correction of bulbous nasal tip in rhinoplasty is a difficult subject, particularly in Asian. Since first published an article on the correction of bulbous nasal tip in 1999, we have accumulated more experiences and improved our result in refining nasal tip. We had 17 patients for the correction of bulbous nasal tip. Age ranged from 20 to 39 years old (Mean age, 26.7 years old) and 6 males and 11 females. We were able to follow up from 1 month to 6 years. We classified our patients into three groups according to the shapes of nasal tip and surgical procedures implicated. Group 1: Simple bulbous nasal tip requiring excision of subdermal soft tissue and rearrangement. Group 2: Bulbous nasal tip with flat dorsum of nose, requiring augmentation of dorsum of nose with silicone implant and augmentation of nasal tip with onlay graft with conchal cartilage. Group 3: Bulbous nasal tip with short columella, requiring nasal tip plasty and lengthening of columella with composite graft using helix of ear. Open rhinoplasty technique was applied in all patients with excising subdermal fibrous tissue from nasal tip, and realignment and fixation of alar cartilage with interdomal sutures. Pressure splint was applied on 7th postoperative days and maintained for a couple of months. Proper preoperative diagnosis, subdermal soft tissue excision, realignment and fixation of alar cartilage, cartilage graft, augmentation of dorsum of nose, columella lengthening, postoperative splint and combinations of these are the key of successful results.